ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA206393
Gene: KMT2D
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Pro497Leu
CA206392
NM_003482.4:c.1490C>T