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: PA2580198831

Gene: ADAMTSL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1987132

ClinVar RCV Id: RCV002771049

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001275537.1:p.Met674Ile	CA1078466 NM_001288608.2:c.2022G>A CA342313651 NM_001288608.2:c.2022G>C CA342313652 NM_001288608.2:c.2022G>T