Allele Registry

Canonical Allele Identifier: PA125531

Gene: HBB HGNC NCBI

ClinVar RCV:

RCV000016880

RCV001811167

RCV002482878

ClinVar Variation:

15613

HGVS (amino-acid)	Matching Registered Transcripts
NP_000509.1:p.Leu69Phe	CA038102 NM_000518.5:c.[205C>T;20A>T] CA125530 NM_000518.5:c.205C>T