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: PA2826590604

Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2122322

ClinVar RCV Id: RCV003053990

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265273.1:p.Ser684Arg	CA345392708 NM_001278344.2:c.2050A>C CA345392714 NM_001278344.2:c.2052C>A CA345392715 NM_001278344.2:c.2052C>G