ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827053395
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
464223
ClinVar RCV Id:
RCV000764396
RCV000559143
RCV002448687
RCV001002006
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307634.1:p.Ala999Pro
CA2207853
NM_001320705.2:c.2995G>C