Canonical Allele Identifier: PA172423
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 158754
ClinVar RCV Id: RCV000146196 RCV000659703 RCV001404137 RCV001709495 RCV003224166
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003473.3:p.Gln836Lys
CA172422
NM_003482.4:c.2506C>A