ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658655460
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
445387
ClinVar RCV Id:
RCV000514080
RCV000659801
RCV002060186
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Arg4212Trp
CA6546171
NM_003482.4:c.12634C>T