ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828849198
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
464220
ClinVar RCV Id:
RCV000554679
RCV001509205
RCV003403290
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366562.1:p.Arg818Cys
CA2208089
NM_001379633.1:c.2452C>T