ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829021543
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_001372219.1:p.Ala483Glu
CA356906410
NM_001385290.1:c.1448C>A