ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573230721
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1509757
ClinVar RCV Id:
RCV002040759
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg2005Cys
CA384627068
NM_003482.4:c.6013C>T