Allele Registry

Canonical Allele Identifier: PA124903

Gene: HBB HGNC NCBI

ClinVar RCV:

RCV000016379

RCV003103714

RCV003234908

ClinVar Variation:

15196

HGVS (amino-acid)	Matching Registered Transcripts
NP_000509.1:p.Lys62Asn	CA124902 NM_000518.5:c.186G>C CA217114159 NM_000518.5:c.186G>T