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: PA252829

Gene: ACADM HGNC NCBI

Linked Data

ClinVar Variation Id: 3590

ClinVar RCV Id: RCV000003773

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120800.1:p.Cys248Arg	CA252828 NM_001127328.3:c.742T>C