Allele Registry

Canonical Allele Identifier: PA645470650

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000001527

RCV000432186

ClinVar Variation:

1462

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245137.1:p.Arg201Trp	CA251820 NM_001258208.2:c.601C>T