Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2830440944

Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 450255

ClinVar RCV Id: RCV000521931 RCV000528465

ClinVar Variation Id: 1454039

ClinVar RCV Id: RCV001960564

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_955468.1:p.Lys356Asn	CA346501329 NM_199436.2:c.1068G>C CA346501330 NM_199436.2:c.1068G>T