Canonical Allele Identifier: PA915958374
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15392
ClinVar RCV Id: RCV000016645
ClinVar Variation Id: 1330067
ClinVar RCV Id: RCV001801084

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000509.1:p.Lys133Asn
CA217112387
NM_000518.5:c.399A>T
CA217112390
NM_000518.5:c.399A>C