ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580283897
Gene: KMT2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2138215
ClinVar RCV Id:
RCV003050519
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Pro1936Arg
CA6547429
NM_003482.4:c.5807C>G