ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA349322
Gene: SPG7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219448
ClinVar RCV Id:
RCV000205117
RCV000413637
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003110.1:p.Leu695Pro
CA349321
NM_003119.4:c.2084T>C