ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828861201
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000492064
RCV000523291
RCV001202708
RCV001391606
RCV001848859
ClinVar Variation:
428604
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366569.1:p.Pro305Leu
CA351297780
NM_001379640.1:c.914C>T