Canonical Allele Identifier: PA202517
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 196690
ClinVar RCV Id: RCV000177547 RCV000659746 RCV001522735 RCV001618333 RCV004537435
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003473.3:p.Pro2349Leu
CA202516
NM_003482.4:c.7046C>T