ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829022794
Gene: KIT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2625013
ClinVar RCV Id:
RCV003377692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372221.1:p.Ala594Val
CA356907874
NM_001385292.1:c.1781C>T