ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580283903
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2143298
ClinVar RCV Id:
RCV003051438
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Pro1951Leu
CA384628007
NM_003482.4:c.5852C>T