Allele Registry

Canonical Allele Identifier: PA251829

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000001534

RCV002298429

ClinVar Variation:

1469

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019553.1:p.Cys230Arg	CA251828 NM_001024382.2:c.688T>C