Allele Registry

Canonical Allele Identifier: PA2825333215

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV002254508

ClinVar Variation:

1691435

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019553.1:p.Ala235Pro	CA382897968 NM_001024382.2:c.703G>C