Allele Registry

Canonical Allele Identifier: PA645470607

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV003764513

ClinVar Variation:

1485

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245137.1:p.Leu81Pro	CA251843 NM_001258208.2:c.242T>C