Allele Registry

Canonical Allele Identifier: PA103016

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000001537

RCV002512652

ClinVar Variation:

1472

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Ala252Thr	CA251832 NM_000190.4:c.754G>A