Allele Registry

Canonical Allele Identifier: PA124856

Gene: HBB HGNC NCBI

ClinVar RCV:

RCV000016347

RCV001811152

ClinVar Variation:

15172

HGVS (amino-acid)	Matching Registered Transcripts
NP_000509.1:p.Asn58Lys	CA124855 NM_000518.5:c.174C>A CA217114221 NM_000518.5:c.174C>G