ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573231749
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1410170
ClinVar RCV Id:
RCV001916316
RCV002484456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Glu4549Lys
CA384703245
NM_003482.4:c.13645G>A