Allele Registry

Canonical Allele Identifier: PA251844

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV003764513

ClinVar Variation:

1485

HGVS (amino-acid)	Matching Registered Transcripts
NP_001019553.1:p.Leu64Pro	CA251843 NM_001024382.2:c.191T>C