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: PA2828475562

Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 813286

ClinVar RCV Id: RCV001004057 RCV001347643

ClinVar Variation Id: 2950788

ClinVar RCV Id: RCV003810098 RCV004366669

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001358176.1:p.Lys1260Asn	CA349028102 NM_001371247.1:c.3780G>C CA349028108 NM_001371247.1:c.3780G>T