Allele Registry

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.

Canonical Allele Identifier: PA126108

Gene: GNAS HGNC NCBI

Linked Data

ClinVar Variation Id: 15953

ClinVar RCV Id: RCV000017322 RCV000017323 RCV002243646

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_536350.2:p.Pro758Leu	CA126104 NM_080425.4:c.2273C>T