ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828861429
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000512977
RCV000703923
ClinVar Variation:
444561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366569.1:p.Val542Ile
CA2208324
NM_001379640.1:c.1624G>A