ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658655454
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
445613
ClinVar RCV Id:
RCV000514112
RCV004535658
RCV002060204
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg2860Cys
CA6546819
NM_003482.4:c.8578C>T