Canonical Allele Identifier: PA658810080
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 500787
ClinVar RCV Id: RCV000592375 RCV001854069
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003473.3:p.His2486Tyr
CA384747665
NM_003482.4:c.7456C>T