Allele Registry

Canonical Allele Identifier: PA2573187919

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV002017727

ClinVar Variation:

1509204

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245137.1:p.Arg167Pro	CA382894056 NM_001258208.2:c.500G>C