Allele Registry

Canonical Allele Identifier: PA251821

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000001527

RCV000432186

ClinVar Variation:

1462

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019553.1:p.Arg184Trp	CA251820 NM_001024382.2:c.550C>T