ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA160554
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134693
ClinVar RCV Id:
RCV000121403
RCV000763857
RCV000767217
RCV001854641
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg2095His
CA160553
NM_003482.4:c.6284G>A