Allele Registry

Canonical Allele Identifier: PA645470636

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000001511

RCV000520560

RCV003764509

RCV003764510

ClinVar Variation:

1446

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245137.1:p.Arg167Gln	CA251795 NM_001258208.2:c.500G>A