ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580283490
Gene: KMT2D
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Pro697Ser
CA6548350
NM_003482.4:c.2089C>T