ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499264151
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1193141
ClinVar RCV Id:
RCV001555441
RCV001821879
RCV002072074
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Met1941Val
CA6547427
NM_003482.4:c.5821A>G