ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580136076
Gene: SETD5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2347535
ClinVar RCV Id:
RCV002963698
RCV003778003
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073986.1:p.Arg1338Lys
CA2239850
NM_001080517.3:c.4013G>A