ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA160616
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134722
ClinVar RCV Id:
RCV000121434
RCV001854646
RCV004530012
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Ala4528Thr
CA160615
NM_003482.4:c.13582G>A