Allele Registry

Canonical Allele Identifier: PA915958131

Gene: HBB HGNC NCBI

ClinVar RCV:

RCV001811595

RCV002280786

ClinVar Variation:

811501

HGVS (amino-acid)	Matching Registered Transcripts
NP_000509.1:p.Gln40Lys	CA217114557 NM_000518.5:c.118C>A