ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828971179
Gene: KIT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1009776
ClinVar RCV Id:
RCV001307308
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372215.1:p.Ser816Cys
CA356911963
NM_001385286.1:c.2447C>G