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: PA2573203863

Gene: SYNE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1415617

ClinVar RCV Id: RCV001933173

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001334631.1:p.Phe962Leu	CA366088545 NM_001347702.2:c.2886C>A CA366088547 NM_001347702.2:c.2886C>G CA366088558 NM_001347702.2:c.2884T>C