Canonical Allele Identifier: PA160508
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 94209
ClinVar RCV Id: RCV000121380 RCV000365620 RCV000723541 RCV002055153 RCV004019552 RCV003224138 RCV004537346
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003473.3:p.Pro998Thr
CA160507
NM_003482.4:c.2992C>A