ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA208190
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
211320
ClinVar RCV Id:
RCV000194184
RCV000697204
RCV002517944
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg845Trp
CA208189
NM_003482.4:c.2533C>T