Allele Registry

Canonical Allele Identifier: PA125131

Gene: HBB HGNC NCBI

ClinVar RCV:

RCV000016568

RCV000589733

ClinVar Variation:

15329

HGVS (amino-acid)	Matching Registered Transcripts
NP_000509.1:p.Lys121Asn	CA125130 NM_000518.5:c.363A>C CA379273710 NM_000518.5:c.363A>T