Allele Registry

Canonical Allele Identifier: PA658826857

Gene: HMBS HGNC NCBI

ClinVar RCV:

RCV000605528

RCV001102686

RCV001860291

ClinVar Variation:

510995

HGVS (amino-acid)	Matching Registered Transcripts
NP_000181.2:p.Ala9Glu	CA6313828 NM_000190.4:c.26C>A