Canonical Allele Identifier: PA658810139
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 520588
ClinVar RCV Id: RCV000622538 RCV001474222
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003473.3:p.Ser3708Arg
CA6546363
NM_003482.4:c.11124C>G
CA384723498
NM_003482.4:c.11124C>A
CA384723510
NM_003482.4:c.11122A>C