ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828967267
Gene: KIT
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000425679
ClinVar Variation:
376148
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372214.1:p.Asp819Val
CA16602605
NM_001385285.1:c.2456A>T