Allele Registry

Canonical Allele Identifier: PA125359

Gene: HBB HGNC NCBI

ClinVar RCV:

RCV000016757

RCV001175128

RCV003226436

ClinVar Variation:

15495

917854

HGVS (amino-acid)	Matching Registered Transcripts
NP_000509.1:p.Asp100Glu	CA217113477 NM_000518.5:c.300T>G CA217113480 NM_000518.5:c.300T>A