ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645489255
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289844
ClinVar RCV Id:
RCV000362351
RCV002519328
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg1835Cys
CA6547524
NM_003482.4:c.5503C>T