Canonical Allele Identifier: PA2828119292
Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 493274
ClinVar RCV Id: RCV000585458 RCV003233753
ClinVar Variation Id: 857953
ClinVar RCV Id: RCV001063727
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350752.1:p.Ser594Arg
CA346505634
NM_001363823.2:c.1780A>C
CA346505640
NM_001363823.2:c.1782C>A
CA346505641
NM_001363823.2:c.1782C>G