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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:
CA2576530738
Gene: GALR1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.77268565_77268566insACC , CM000680.2:g.77268565_77268566insACC
GRCh38
NC_000018.9:g.74980521_74980522insACC , CM000680.1:g.74980521_74980522insACC
GRCh37
NC_000018.8:g.73109509_73109510insACC
NCBI36
NG_009223.1:g.23514_23515insACC
Transcript Alleles
HGVS
Amino-acid change
ENST00000299727.5:c.733-20_733-19insACC
MANE Select
ENSP00000299727.3:n.733-20_733-19insACC
ENST00000299727.4:c.733-20_733-19insACC
ENSP00000299727.3:n.733-20_733-19insACC
NM_001480.3:c.733-20_733-19insACC
NP_001471.2:n.733-20_733-19insACC
NM_001480.4:c.733-20_733-19insACC
MANE Select
NP_001471.2:n.733-20_733-19insACC
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