ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828844616
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
245928
ClinVar RCV Id:
RCV000236924
RCV001334229
RCV003765473
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366560.1:p.Tyr347Cys
CA10584195
NM_001379631.1:c.1040A>G