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: PA2830406473

Gene: SYNE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 860559

ClinVar RCV Id: RCV001066885

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_892006.3:p.Gly8760Arg	CA4052595 NM_182961.4:c.26278G>A CA366088853 NM_182961.4:c.26278G>C