ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828963142
Gene: KIT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
239477
ClinVar RCV:
RCV000227916
RCV001012312
RCV001148178
RCV001148179
RCV003150989
RCV003237783
ClinVar Variation:
237248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372213.1:p.Val533Ile
CA2923528
NM_001385284.1:c.1597G>A