Allele Registry

Canonical Allele Identifier: PA124996

Gene: HBB HGNC NCBI

ClinVar RCV:

RCV000016451

RCV001804737

RCV003476894

ClinVar Variation:

15246

HGVS (amino-acid)	Matching Registered Transcripts
NP_000509.1:p.Ser50Phe	CA124995 NM_000518.5:c.149C>T