ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499304389
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
989166
ClinVar RCV Id:
RCV001391569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955468.1:p.Val118Leu
CA346602372
NM_199436.2:c.352G>C