ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826820974
Gene: SETD5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1520099
ClinVar RCV Id:
RCV002043876
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278972.1:p.Thr1199Met
CA2239822
NM_001292043.1:c.3596C>T