ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA147702
Gene: KMT2D
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003473.3:p.Ser2251Leu
CA147701
NM_003482.4:c.6752C>T