Allele Registry

Canonical Allele Identifier: PA272876

Gene: HMBS HGNC NCBI

MaveDb:

Score 0.863077075

ClinVar RCV:

RCV000148508

RCV000730694

ClinVar Variation:

161250

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Arg321His	CA272874 NM_000190.4:c.962G>A