Canonical Allele Identifier: PA645490639
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 309000
ClinVar RCV Id: RCV000733020 RCV000768006 RCV001859847 RCV003224256 RCV002520810
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003473.3:p.Ile5232Val
CA6545511
NM_003482.4:c.15694A>G