ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658810107
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500417
ClinVar RCV Id:
RCV000594517
RCV002062068
RCV003160039
RCV004543366
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Pro3129Ser
CA6546701
NM_003482.4:c.9385C>T