ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA160634
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134731
ClinVar RCV Id:
RCV000121443
RCV000865112
RCV002515877
RCV000659829
RCV001705895
RCV004542884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg5266His
CA160633
NM_003482.4:c.15797G>A