ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA160526
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134680
ClinVar RCV Id:
RCV000121389
RCV003753089
RCV003133136
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg1835Leu
CA160525
NM_003482.4:c.5504G>T