Canonical Allele Identifier: PA2828119145
Gene: SPAST HGNC NCBI
ClinVar RCV:
RCV000526604
ClinVar Variation:
468565
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350752.1:p.Gly470Asp
CA346502364
NM_001363823.2:c.1409G>A
CA2586964768
NM_001363823.2:c.1409_1410delinsAC