ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA125049
Gene: HBB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000016510
RCV001811159
RCV001826466
RCV004525854
ClinVar Variation:
15280
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Lys62Glu
CA125048
NM_000518.5:c.184A>G