Allele Registry

Canonical Allele Identifier: PA3057490812

Gene: HBB HGNC NCBI

ClinVar RCV:

RCV005050237

ClinVar Variation:

3599782

HGVS (amino-acid)	Matching Registered Transcripts
NP_000509.1:p.Ala130Thr	CA5839694 NM_000518.5:c.388G>A