ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA067375
Gene: SF3B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219098
ClinVar RCV Id:
RCV000203465
RCV000441310
RCV000431140
ClinVar Variation Id:
376005
ClinVar RCV Id:
RCV000420231
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036565.2:p.Lys666Asn
CA280929
NM_012433.4:c.1998G>T
CA2042625
NM_012433.4:c.1998G>C