ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827298147
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_001317219.1:p.Pro1020Ser
CA202153
NM_001330290.2:c.3058C>T