ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA160624
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134726
ClinVar RCV Id:
RCV000121438
RCV000659812
RCV000872102
RCV001514713
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Glu4694Gln
CA160623
NM_003482.4:c.14080G>C