Allele Registry

Canonical Allele Identifier: PA2826454859

Gene: HMBS HGNC NCBI

ClinVar Allele:

171131

ClinVar RCV:

RCV000148508

RCV000730694

ClinVar Variation:

161250

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245137.1:p.Arg281His	CA272874 NM_001258208.2:c.842G>A