ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA324688
Gene: SPG7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
215224
ClinVar RCV Id:
RCV000200130
RCV003417715
RCV002515440
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003110.1:p.Glu702Lys
CA324687
NM_003119.4:c.2104G>A