Canonical Allele Identifier: PA2828121070
Gene: SPG7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42016
ClinVar RCV Id: RCV000034858 RCV000195683 RCV000270813 RCV000515835 RCV000626837 RCV000623796 RCV000677252 RCV000850200 RCV001003619 RCV002463623 RCV003421943
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350779.1:p.Ala510Val
CA090884
NM_001363850.1:c.1529C>T