ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA160518
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134676
ClinVar RCV Id:
RCV000121385
RCV004528828
RCV002055346
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Thr1710Met
CA160517
NM_003482.4:c.5129C>T