Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2829467800

Gene: DYSF HGNC NCBI

Linked Data

ClinVar Variation Id: 1932275

ClinVar RCV Id: RCV002649399

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003485.1:p.Asn1373Lys	CA49779104 NM_003494.4:c.4119C>A CA347228694 NM_003494.4:c.4119C>G