ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645450614
Gene: SF3B1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
362923
ClinVar RCV:
RCV000444674
ClinVar Variation:
376044
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036565.2:p.Lys700Thr
CA16602511
NM_012433.4:c.2099A>C