Allele Registry

Canonical Allele Identifier: PA125115

Gene: HBB HGNC NCBI

ClinVar RCV:

RCV000016559

RCV000641585

RCV000757358

ClinVar Variation:

15319

618675

HGVS (amino-acid)	Matching Registered Transcripts
NP_000509.1:p.Lys83Asn	CA217113752 NM_000518.5:c.249G>T CA217113764 NM_000518.5:c.249G>C