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: PA2830088632

Gene: SYNE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 282528

ClinVar RCV Id: RCV000352711 RCV001225965

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_149062.2:p.Phe7383Leu	CA4053891 NM_033071.5:c.22149T>A CA366099557 NM_033071.5:c.22149T>G CA366099566 NM_033071.5:c.22147T>C