Canonical Allele Identifier: PA2828121138
Gene: SPG7 HGNC NCBI

Linked Data

ClinVar Variation Id: 6820
ClinVar RCV Id: RCV000007222 RCV000996411
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350779.1:p.Trp583Cys
CA253969
NM_001363850.1:c.1749G>C
CA397431164
NM_001363850.1:c.1749G>T