ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA160520
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134677
ClinVar RCV Id:
RCV000121386
RCV001838982
RCV001854636
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Pro1736Arg
CA160519
NM_003482.4:c.5207C>G