ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573077932
Gene: KIT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134621
ClinVar RCV Id:
RCV000121314
RCV000234206
RCV001012201
RCV001147271
RCV001148177
RCV001358169
RCV003915210
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372219.1:p.Val531Ile
CA160350
NM_001385290.1:c.1591G>A