ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828871425
Gene: KIF1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000149476
ClinVar Variation:
162054
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366578.1:p.Val144Phe
CA212618
NM_001379649.1:c.430G>T