Allele Registry

Canonical Allele Identifier: PA103084

Gene: HMBS HGNC NCBI

MaveDb:

Score 0.964181515

Score 0.970193298

Score 0.966283652

ClinVar RCV:

RCV000001523

RCV002272005

RCV003234886

ClinVar Variation:

1458

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Ala55Ser	CA251818 NM_000190.4:c.163G>T