ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829018453
Gene: KIT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1495474
ClinVar RCV Id:
RCV001991399
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372215.1:p.Tyr494Asn
CA356906487
NM_001385286.1:c.1480T>A