Allele Registry

Canonical Allele Identifier: PA2580058014

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV003821765

ClinVar Variation:

2969631

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Gly216Ala	CA382896864 NM_000190.4:c.647G>C