Canonical Allele Identifier: PA243750
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 196684
ClinVar RCV Id: RCV000177540 RCV001362360
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003473.3:p.Arg2217Cys
CA243749
NM_003482.4:c.6649C>T