Canonical Allele Identifier: PA658655461
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 445885
ClinVar RCV Id: RCV000513947 RCV000659821 RCV001857870
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003473.3:p.Arg5030Cys
CA384690106
NM_003482.4:c.15088C>T