ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915970952
Gene: KIT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409759
ClinVar RCV Id:
RCV000470178
RCV001023887
RCV002286738
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001087241.1:p.Leu18Phe
CA2923118
NM_001093772.2:c.52C>T