ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA245838
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197586
ClinVar RCV Id:
RCV000178651
RCV000623497
RCV001852217
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg5179Cys
CA245837
NM_003482.4:c.15535C>T