Allele Registry

Canonical Allele Identifier: PA2826454820

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000430573

ClinVar Variation:

381651

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245137.1:p.Val227Met	CA16606875 NM_001258208.2:c.679G>A