ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645450632
Gene: SF3B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
376004
ClinVar RCV Id:
RCV000420863
RCV001531943
RCV002291501
RCV003401412
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036565.2:p.Lys700Glu
CA2042597
NM_012433.4:c.2098A>G