ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA123539
Gene: KIT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000213.1:p.Glu839Lys
NM_000222.3:c.2515G>A