Allele Registry

Canonical Allele Identifier: PA124992

Gene: HBB HGNC NCBI

ClinVar RCV:

RCV000016449

RCV000587238

RCV000855647

RCV001826465

ClinVar Variation:

15244

HGVS (amino-acid)	Matching Registered Transcripts
NP_000509.1:p.Asp74Asn	CA036698 NM_000518.5:c.[220G>A;20A>T] CA124991 NM_000518.5:c.220G>A