ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828867950
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001991196
ClinVar Variation:
1480109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366574.1:p.Lys1729Gln
CA351297869
NM_001379645.1:c.5185A>C