Allele Registry

Canonical Allele Identifier: PA125485

Gene: HBB HGNC NCBI

ClinVar RCV:

RCV000016847

ClinVar Variation:

15580

HGVS (amino-acid)	Matching Registered Transcripts
NP_000509.1:p.Phe123Leu	CA125484 NM_000518.5:c.367T>C CA358371 NM_000518.5:c.[367T>C;197A>T] CA217112586 NM_000518.5:c.369C>A CA217112593 NM_000518.5:c.369C>G