Allele Registry

Canonical Allele Identifier: PA658812380

Gene: HMBS HGNC NCBI

ClinVar Allele:

503169

ClinVar RCV:

RCV000605528

RCV001102686

RCV001860291

ClinVar Variation:

510995

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245137.1:p.Ala9Glu	CA6313828 NM_001258208.2:c.26C>A