ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573076667
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000176875
RCV000415745
RCV000715995
RCV000987072
RCV001084426
RCV001847816
ClinVar Variation:
196129
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366567.1:p.Pro995Ser
CA202153
NM_001379638.1:c.2983C>T