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: PA2742020691

Gene: ABCA12 HGNC NCBI

Linked Data

ClinVar Variation Id: 2883639

ClinVar RCV Id: RCV003722074

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_775099.2:p.Met742Ile	CA2092007 NM_173076.3:c.2226G>T CA350483615 NM_173076.3:c.2226G>C CA350483616 NM_173076.3:c.2226G>A