Canonical Allele Identifier: PA2828125250
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 2811936
ClinVar RCV Id: RCV003634654

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350804.1:p.Phe394Leu
CA346502053
NM_001363875.2:c.1180T>C
CA346502058
NM_001363875.2:c.1182T>A
CA346502059
NM_001363875.2:c.1182T>G