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: PA214678

Gene: GNAS HGNC NCBI

Linked Data

ClinVar Variation Id: 15942

ClinVar RCV Id: RCV000017307

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070957.1:p.Arg243Ala	CA214677 NM_001077489.4:c.727_728delinsGC