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: PA2826615431

Gene: ELN HGNC NCBI

Linked Data

ClinVar Variation Id: 360635

ClinVar RCV Id: RCV000276091 RCV000541772 RCV001706598

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265842.1:p.Phe75Leu	CA4292410 NM_001278913.2:c.223T>C CA367869203 NM_001278913.2:c.225T>A CA367869204 NM_001278913.2:c.225T>G