ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827297950
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000202975
RCV001236114
RCV002433897
RCV003324729
ClinVar Variation:
218551
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317219.1:p.Arg903Cys
CA249179
NM_001330290.2:c.2707C>T