Canonical Allele Identifier: PA645490544
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 280132
ClinVar RCV Id: RCV000376655 RCV000505249 RCV001220983 RCV004535247
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003473.3:p.Arg5048His
CA10603305
NM_003482.4:c.15143G>A