Allele Registry

Canonical Allele Identifier: PA251833

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000001537

RCV002512652

ClinVar Variation:

1472

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019553.1:p.Ala235Thr	CA251832 NM_001024382.2:c.703G>A