Canonical Allele Identifier: PA2830440996
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 989109
ClinVar RCV Id: RCV001391507

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_955468.1:p.Ser375Arg
CA346501459
NM_199436.2:c.1123A>C
CA346501465
NM_199436.2:c.1125T>A
CA346501466
NM_199436.2:c.1125T>G