Allele Registry

Canonical Allele Identifier: PA125404

Gene: HBB HGNC NCBI

ClinVar RCV:

RCV000016795

RCV000587370

ClinVar Variation:

15530

HGVS (amino-acid)	Matching Registered Transcripts
NP_000509.1:p.Phe42Ser	CA125403 NM_000518.5:c.125T>C