Canonical Allele Identifier: PA271611
Gene: KMT2D HGNC NCBI
ClinVar RCV:
RCV000146182
ClinVar Variation:
158741
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003473.3:p.Arg5471Trp
CA271610
NM_003482.4:c.16411A>T