ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573082899
Gene: KMT2D
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Ser2216Phe
CA384750182
NM_003482.4:c.6647C>T