ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828965782
Gene: KIT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1372178
ClinVar RCV Id:
RCV001907952
RCV002388738
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372214.1:p.Ala482Glu
CA356906410
NM_001385285.1:c.1445C>A