ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829022916
Gene: KIT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000421498
ClinVar Variation:
376058
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372221.1:p.Thr667Ile
CA16602525
NM_001385292.1:c.2000C>T