Allele Registry

Canonical Allele Identifier: PA125119

Gene: HBB HGNC NCBI

ClinVar RCV:

RCV000016561

RCV000641593

ClinVar Variation:

15321

HGVS (amino-acid)	Matching Registered Transcripts
NP_000509.1:p.Lys83Thr	CA125118 NM_000518.5:c.248A>C