Allele Registry

Canonical Allele Identifier: PA3057451472

Gene: HBB HGNC NCBI

ClinVar RCV:

RCV004997908

ClinVar Variation:

3572116

HGVS (amino-acid)	Matching Registered Transcripts
NP_000509.1:p.Glu44Lys	CA217114465 NM_000518.5:c.130G>A