ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA221993
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94147
ClinVar RCV Id:
RCV000080110
RCV000763853
RCV001854412
RCV004537340
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Gln3717Pro
CA221992
NM_003482.4:c.11150A>C