ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580285322
Gene: KMT2D
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
2088052
ClinVar RCV:
RCV002880427
ClinVar Variation:
2025011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg5432Leu
CA384677598
NM_003482.4:c.16295G>T