ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825946810
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2069015
ClinVar RCV Id:
RCV002975275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153699.1:p.Arg93Leu
CA392238422
NM_001160227.2:c.278G>T