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: PA2825738316

Gene: SYNGAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3007819

ClinVar RCV Id: RCV003864418

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123538.1:p.Met820Ile	CA363625531 NM_001130066.2:c.2460G>A CA363625532 NM_001130066.2:c.2460G>C CA363625535 NM_001130066.2:c.2460G>T