Allele Registry

Canonical Allele Identifier: PA251805

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000001515

ClinVar Variation:

1450

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019553.1:p.Leu228Arg	CA251804 NM_001024382.2:c.683T>G