Allele Registry

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Canonical Allele Identifier: PA160574

Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 94258

ClinVar RCV Id: RCV000121413 RCV000638442 RCV001514840 RCV002498411

ClinVar Variation Id: 716432

ClinVar RCV Id: RCV002487947 RCV004541813 RCV000889080

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003473.3:p.Pro2717Ser	CA160573 NM_003482.4:c.8148_8149delinsCT CA6546907 NM_003482.4:c.8149C>T