Canonical Allele Identifier: PA160540
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 134687
ClinVar RCV Id: RCV000121396 RCV001781462 RCV002055349 RCV004530010
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003473.3:p.Thr2131Asn
CA160539
NM_003482.4:c.6392C>A