Allele Registry

Canonical Allele Identifier: PA645470638

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000001522

ClinVar Variation:

1457

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245137.1:p.Arg167Leu	CA251815 NM_001258208.2:c.500G>T