ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827296744
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
435632
ClinVar RCV Id:
RCV000499628
RCV001391596
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317219.1:p.Ser104Phe
CA351310212
NM_001330290.2:c.311C>T