ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829023476
Gene: KIT
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000466972
RCV001016778
RCV001147478
RCV001148395
RCV003313074
ClinVar Variation:
409716
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372221.1:p.Val946Met
CA2923882
NM_001385292.1:c.2836G>A