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: PA2827992053

Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 233102

ClinVar RCV Id: RCV000214194 RCV000590719 RCV003535578

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341830.1:p.Leu397Phe	CA10578315 NM_001354901.2:c.1189C>T