Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2828121220

Gene: SPG7 HGNC NCBI

Linked Data

ClinVar Variation Id: 130370

ClinVar RCV Id: RCV000118410 RCV000576393 RCV001705869 RCV001847730

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350779.1:p.Arg688Gln	CA155289 NM_001363850.1:c.2063G>A