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: PA2828804148

Gene: CERT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419654

ClinVar RCV Id: RCV000480594 RCV001253088

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365931.1:p.Ser132Leu	CA16618211 NM_001379002.1:c.395C>T