Canonical Allele Identifier: PA658810047
Gene: KMT2D HGNC NCBI

Linked Data

ClinVar Variation Id: 521972
ClinVar RCV Id: RCV000623468 RCV003753146
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003473.3:p.Gln2170His
CA6547248
NM_003482.4:c.6510A>C
CA384750616
NM_003482.4:c.6510A>T