ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA345676
Gene: SPG7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
139241
ClinVar RCV Id:
RCV000128202
RCV000585517
RCV000989665
RCV001847762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003110.1:p.Arg486Gln
CA345675
NM_003119.4:c.1457G>A