Canonical Allele Identifier: PA124984
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15239
ClinVar RCV Id: RCV000016439 RCV000016440 RCV000016441 RCV000169609 RCV000780311 RCV001004353 RCV000757368 RCV003992156
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000509.1:p.Ala28Ser
CA124983
NM_000518.5:c.82G>T