Canonical Allele Identifier: PA2828119026
Gene: SPAST HGNC NCBI
ClinVar RCV:
RCV000536355
ClinVar Variation:
468561
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350752.1:p.Ser398Trp
CA346501409
NM_001363823.2:c.1193C>G