ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827294353
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
428604
ClinVar RCV Id:
RCV000492064
RCV001202708
RCV000523291
RCV001391606
RCV001848859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317218.1:p.Pro305Leu
CA351297780
NM_001330289.2:c.914C>T