Allele Registry

Canonical Allele Identifier: PA645470632

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000001514

ClinVar Variation:

1449

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245137.1:p.Arg149Gln	CA251802 NM_001258208.2:c.446G>A