ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110652
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94185
ClinVar RCV Id:
RCV000178659
RCV000824832
RCV001854414
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg5214His
CA222037
NM_003482.4:c.15641G>A