ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828864778
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
37004
ClinVar RCV Id:
RCV000030681
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366571.1:p.Arg350Gly
CA130024
NM_001379642.1:c.1048C>G