Canonical Allele Identifier: PA2828121058
Gene: SPG7 HGNC NCBI

Linked Data

ClinVar Variation Id: 139241
ClinVar RCV Id: RCV000128202 RCV000585517 RCV000989665 RCV001847762
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350779.1:p.Arg486Gln
CA345675
NM_001363850.1:c.1457G>A