Allele Registry

Canonical Allele Identifier: PA103104

Gene: HMBS HGNC NCBI

MaveDb:

Score 0.20230835

Score 0.184197436

Score 0.161020096

ClinVar RCV:

RCV000001510

RCV001212053

ClinVar Variation:

1445

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Arg116Trp	CA251793 NM_000190.4:c.346C>T