ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658810085
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499552
ClinVar RCV Id:
RCV000595782
RCV000763854
RCV001821725
RCV001854046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Thr2524Met
CA6547036
NM_003482.4:c.7571C>T