ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828970247
Gene: KIT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000428356
ClinVar Variation:
376730
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372215.1:p.Lys554Gln
CA16603138
NM_001385286.1:c.1660A>C