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: PA645470646

Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 372379

ClinVar RCV Id: RCV000413917 RCV000779045

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245137.1:p.Asp178Asn	CA6314087 NM_001258208.2:c.532G>A