Allele Registry

This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.

Canonical Allele Identifier: PA124848

Gene: HBB HGNC NCBI

ClinVar RCV:

RCV000016340

RCV001811151

RCV001831569

RCV002281709

ClinVar Variation:

15168

HGVS (amino-acid)	Matching Registered Transcripts
NP_000509.1:p.His78Tyr	CA124847 NM_000518.5:c.232C>T