Allele Registry

Canonical Allele Identifier: PA103170

Gene: HMBS HGNC NCBI

MaveDb:

Score 0.148733865

Score 0.247595886

Score 0.536989523

ClinVar RCV:

RCV000148509

RCV001041963

ClinVar Variation:

161251

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Arg195Cys	CA272877 NM_000190.4:c.583C>T