Allele Registry

Canonical Allele Identifier: PA124872

Gene: HBB HGNC NCBI

ClinVar RCV:

RCV000016358

RCV001284627

ClinVar Variation:

15180

993224

HGVS (amino-acid)	Matching Registered Transcripts
NP_000509.1:p.Gly47Arg	CA124871 NM_000518.5:c.139G>A CA379274482 NM_000518.5:c.139G>C