ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA222050
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94195
ClinVar RCV Id:
RCV000080158
RCV002515768
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Pro620Arg
CA222049
NM_003482.4:c.1859C>G