ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829019650
Gene: KIT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409771
ClinVar RCV Id:
RCV000475580
RCV002402278
RCV003236804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372217.1:p.His516Tyr
CA2923523
NM_001385288.1:c.1546C>T