Canonical Allele Identifier: PA222115
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 94253
ClinVar RCV Id: RCV000080216 RCV000509287 RCV001487017 RCV001682771 RCV004537352
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003473.3:p.Met2652Leu
CA222114
NM_003482.4:c.7954A>C
CA384746079
NM_003482.4:c.7954A>T