ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645511262
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438838
ClinVar RCV Id:
RCV000505820
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Ser42Phe
CA384690291
NM_003482.4:c.125C>T