Canonical Allele Identifier: PA658680077
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 447672
ClinVar RCV Id: RCV000517847 RCV000659759 RCV004537850 RCV000730803 RCV002525047 RCV002525048
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003473.3:p.Asp2666Glu
CA384745888
NM_003482.4:c.7998C>G
CA384745891
NM_003482.4:c.7998C>A