ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139721949
Gene: SETD2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054878.5:p.Val2483Ile
CA2362482
NM_014159.7:c.7447G>A