ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580283901
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1996996
ClinVar RCV Id:
RCV002807178
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Gln1949_Phe1952del
CA2580086392
NM_003482.4:c.5846_5857del