ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828963011
Gene: KIT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1004231
ClinVar RCV Id:
RCV001300905
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372213.1:p.Pro468Ser
CA356906315
NM_001385284.1:c.1402C>T