ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829022611
Gene: KIT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1393531
ClinVar RCV Id:
RCV001927163
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372221.1:p.Thr517Ala
CA356906912
NM_001385292.1:c.1549A>G