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: PA658675403

Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 474886

ClinVar RCV Id: RCV000531461

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000009.1:p.Thr464Ile	CA397725017 NM_000018.4:c.1391C>T