Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2828124987

Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 1298799

ClinVar RCV Id: RCV001727129 RCV003771877

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350804.1:p.Phe124Leu	CA346602417 NM_001363875.2:c.370T>C CA346602421 NM_001363875.2:c.372C>A CA346602422 NM_001363875.2:c.372C>G