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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2315413109
Gene: GALR1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.77268568_77268571delinsCTCT , CM000680.2:g.77268568_77268571delinsCTCT
GRCh38
NC_000018.9:g.74980524_74980527delinsCTCT , CM000680.1:g.74980524_74980527delinsCTCT
GRCh37
NC_000018.8:g.73109512_73109515delinsCTCT
NCBI36
NG_009223.1:g.23517_23520delinsCTCT
Transcript Alleles
HGVS
Amino-acid Change
ENST00000299727.5:c.733-17_733-14delinsCTCT
MANE Select
ENSP00000299727.3:n.733-17_733-14delinsCTCT
ENST00000299727.4:c.733-17_733-14delinsCTCT
ENSP00000299727.3:n.733-17_733-14delinsCTCT
NM_001480.3:c.733-17_733-14delinsCTCT
NP_001471.2:n.733-17_733-14delinsCTCT
NM_001480.4:c.733-17_733-14delinsCTCT
MANE Select
NP_001471.2:n.733-17_733-14delinsCTCT
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