Allele Registry

Canonical Allele Identifier: PA124759

Gene: HBB HGNC NCBI

ClinVar RCV:

RCV000016270

ClinVar Variation:

15115

HGVS (amino-acid)	Matching Registered Transcripts
NP_000509.1:p.Gln128Lys	CA124758 NM_000518.5:c.382C>A