Canonical Allele Identifier: PA2830441174
Gene: SPAST HGNC NCBI
ClinVar RCV:
RCV000526604
ClinVar Variation:
468565
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_955468.1:p.Gly439Asp
CA346502364
NM_199436.2:c.1316G>A
CA2586964768
NM_199436.2:c.1316_1317delinsAC