ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580136046
Gene: SETD5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2418582
ClinVar RCV Id:
RCV003121331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073986.1:p.Ala1303Thr
CA2239828
NM_001080517.3:c.3907G>A