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: PA1139668622

Gene: SOD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 859765

ClinVar RCV Id: RCV001065949

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000445.1:p.Phe21Leu	CA410036067 NM_000454.5:c.61T>C CA410036076 NM_000454.5:c.63C>A CA410036078 NM_000454.5:c.63C>G