ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828971190
Gene: KIT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375930
ClinVar RCV Id:
RCV000427071
RCV000437313
RCV002286573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372215.1:p.Asn817Ile
CA16602410
NM_001385286.1:c.2450A>T