ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828855817
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000023084
ClinVar Variation:
30166
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366566.1:p.Ala255Val
CA128997
NM_001379637.1:c.764C>T