Canonical Allele Identifier: PA2828121224
Gene: SPG7 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350779.1:p.Ser692Thr
CA253965
NM_001363850.1:c.2075G>C