ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828873333
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30166
ClinVar RCV Id:
RCV000023084
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366579.1:p.Ala255Val
CA128997
NM_001379650.1:c.764C>T