Canonical Allele Identifier: PA323350
Gene: SPG7 HGNC NCBI

Linked Data

ClinVar Variation Id: 215218
ClinVar RCV Id: RCV000198819 RCV000500664 RCV001640295 RCV003401074 RCV001847889
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003110.1:p.Ile743Thr
CA323349
NM_003119.4:c.2228T>C