ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645489723
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281988
ClinVar RCV Id:
RCV000394346
RCV002059096
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Leu2610Pro
CA6546986
NM_003482.4:c.7829T>C