ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA155290
Gene: SPG7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000118410
RCV000576393
RCV001705869
RCV001847730
ClinVar Variation:
130370
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003110.1:p.Arg688Gln
CA155289
NM_003119.4:c.2063G>A