ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA352150
Gene: SETD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
222954
ClinVar RCV Id:
RCV000208561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054878.5:p.Leu1815Trp
CA352148
NM_014159.7:c.5444T>G