ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA222063
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94205
ClinVar RCV Id:
RCV000080168
RCV002515769
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Ser861Cys
CA222062
NM_003482.4:c.2582C>G