Allele Registry

Canonical Allele Identifier: PA645470627

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000148510

RCV001514054

RCV003927449

ClinVar Variation:

161252

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245137.1:p.Glu86Val	CA272879 NM_001258208.2:c.257A>T