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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:
CA2642312122
Gene: GALR1
HGNC
NCBI
Linked Data
gnomAD v4:
18-77268539-A-ACCT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.77268541_77268542insTCC , CM000680.2:g.77268541_77268542insTCC
GRCh38
NC_000018.9:g.74980497_74980498insTCC , CM000680.1:g.74980497_74980498insTCC
GRCh37
NC_000018.8:g.73109485_73109486insTCC
NCBI36
NG_009223.1:g.23490_23491insTCC
Transcript Alleles
HGVS
Amino-acid change
ENST00000299727.5:c.733-44_733-43insTCC
MANE Select
ENSP00000299727.3:n.733-44_733-43insTCC
ENST00000299727.4:c.733-44_733-43insTCC
ENSP00000299727.3:n.733-44_733-43insTCC
NM_001480.3:c.733-44_733-43insTCC
NP_001471.2:n.733-44_733-43insTCC
NM_001480.4:c.733-44_733-43insTCC
MANE Select
NP_001471.2:n.733-44_733-43insTCC
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