Canonical Allele Identifier: PA2828121202
Gene: SPG7 HGNC NCBI

Linked Data

ClinVar Variation Id: 216571
ClinVar RCV Id: RCV000200425 RCV001562435
ClinVar Variation Id: 217271
ClinVar RCV Id: RCV000236261 RCV001847908
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350779.1:p.Gly666Arg
CA339302
NM_001363850.1:c.1996G>C
CA10575796
NM_001363850.1:c.1996G>A