Canonical Allele Identifier: PA222000
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 94153
ClinVar RCV Id: RCV000080116 RCV000330812 RCV001818244 RCV004542763
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003473.3:p.Pro396Arg
CA221999
NM_003482.4:c.1187C>G