ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916027900
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196129
ClinVar RCV Id:
RCV000176875
RCV000415745
RCV000715995
RCV000987072
RCV001084426
RCV001847816
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317218.1:p.Pro995Ser
CA202153
NM_001330289.2:c.2983C>T