ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139670053
Gene: KIT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
939795
ClinVar RCV Id:
RCV001209245
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000213.1:p.Ile527Leu
CA356906989
NM_000222.3:c.1579A>C