ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658655457
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000514006
RCV001857866
RCV002524982
ClinVar Variation:
445622
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg3482Gln
CA6546500
NM_003482.4:c.10445G>A