ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658680265
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
463012
ClinVar RCV Id:
RCV000544912
RCV001261319
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg5351Gln
CA384681045
NM_003482.4:c.16052G>A