ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828971171
Gene: KIT
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000427793
ClinVar Variation:
375927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372215.1:p.Asp815His
CA16602407
NM_001385286.1:c.2443G>C