Allele Registry

Canonical Allele Identifier: PA124852

Gene: HBB HGNC NCBI

ClinVar RCV:

RCV000016342

RCV001284628

RCV004526597

ClinVar Variation:

15170

HGVS (amino-acid)	Matching Registered Transcripts
NP_000509.1:p.Asp48Asn	CA124851 NM_000518.5:c.142G>A