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: PA124775

Gene: HBB HGNC NCBI

ClinVar RCV:

RCV000016281

RCV000985741

RCV001804736

ClinVar Variation:

15123

HGVS (amino-acid)	Matching Registered Transcripts
NP_000509.1:p.Asp95Asn	CA124774 NM_000518.5:c.283G>A