ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA125431
Gene: HBB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000016815
ClinVar Variation:
15549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000509.1:p.Thr39Asn
CA125430
NM_000518.5:c.116C>A