ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828871118
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000418762
RCV000500845
RCV001324698
RCV002524723
ClinVar Variation:
377159
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366577.1:p.Asp1590Glu
CA2207237
NM_001379648.1:c.4770C>G
CA2207238
NM_001379648.1:c.4770C>A