ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828847703
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000539405
RCV000712147
ClinVar Variation:
464229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366561.1:p.Ser1183Leu
CA2207739
NM_001379632.1:c.3548C>T