ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828969954
Gene: KIT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2769232
ClinVar RCV Id:
RCV003526556
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372215.1:p.Ser465Pro
CA356906303
NM_001385286.1:c.1393T>C