ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829018466
Gene: KIT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237246
ClinVar RCV Id:
RCV000227249
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372215.1:p.Thr519Ile
CA2923524
NM_001385286.1:c.1556C>T