ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573078329
Gene: KIT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
639132
ClinVar RCV Id:
RCV000791862
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372221.1:p.Ala494Thr
CA356906482
NM_001385292.1:c.1480G>A