Allele Registry

Canonical Allele Identifier: PA103143

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000001512

RCV001851550

RCV003764511

ClinVar Variation:

1447

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Arg173Gln	CA251797 NM_000190.4:c.518G>A