Allele Registry

Canonical Allele Identifier: PA2825333176

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV003821765

ClinVar Variation:

2969631

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019553.1:p.Gly199Ala	CA382896864 NM_001024382.2:c.596G>C