Canonical Allele Identifier: PA222028
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 94180
ClinVar RCV Id: RCV000172955 RCV000080143 RCV000638430 RCV002514409
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003473.3:p.Arg5048Cys
CA222027
NM_003482.4:c.15142C>T