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: PA2827057905

Gene: ACTA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 239036

ClinVar RCV Id: RCV000227796

ClinVar Variation Id: 664017

ClinVar RCV Id: RCV000822015 RCV002275172

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307784.1:p.Met46Ile	CA10582774 NM_001320855.1:c.138G>A CA377513548 NM_001320855.1:c.138G>T CA377513549 NM_001320855.1:c.138G>C