Canonical Allele Identifier: PA658810267
Gene: SPAST HGNC NCBI
ClinVar RCV:
RCV000644887
ClinVar Variation:
536437
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055761.2:p.Pro374Leu
CA346501238
NM_014946.4:c.1121C>T