ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829018469
Gene: KIT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237248
ClinVar RCV Id:
RCV000227916
RCV001012312
RCV001148178
RCV001148179
RCV003237783
RCV003150989
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372215.1:p.Val528Ile
CA2923528
NM_001385286.1:c.1582G>A