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: PA916002690

Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 448982

ClinVar RCV Id: RCV000522607 RCV000809103

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001257376.1:p.Gly486Glu	CA8338091 NM_001270447.2:c.1457G>A