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: PA915954882

Gene: ABCD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 663759

ClinVar RCV Id: RCV000821703

ClinVar Variation Id: 1062491

ClinVar RCV Id: RCV001372215

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000024.2:p.Thr386Ser	CA415105118 NM_000033.4:c.1156A>T CA415105126 NM_000033.4:c.1157C>G