Allele Registry

Canonical Allele Identifier: PA2826454997

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000001522

ClinVar Variation:

1457

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245138.1:p.Arg150Leu	CA251815 NM_001258209.2:c.449G>T