Canonical Allele Identifier: PA222014
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 94166
ClinVar RCV Id: RCV000080129 RCV003753085
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003473.3:p.Ser4529Arg
CA222013
NM_003482.4:c.13587C>A
CA384703524
NM_003482.4:c.13587C>G
CA384703535
NM_003482.4:c.13585A>C