Allele Registry

Canonical Allele Identifier: PA2828733424

Gene: SPAST HGNC NCBI

ClinVar RCV:

RCV000006030

ClinVar Variation:

5676

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364888.1:p.Ser413Arg	CA253570 NM_001377959.1:c.1239C>A CA346502182 NM_001377959.1:c.1237A>C CA346502188 NM_001377959.1:c.1239C>G