ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA245840
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197589
ClinVar RCV Id:
RCV000178654
RCV000702652
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Leu5077Pro
CA245839
NM_003482.4:c.15230T>C