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: PA2573177206

Gene: ASL HGNC NCBI

Linked Data

ClinVar Variation Id: 1499842

ClinVar RCV Id: RCV002042436

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001020115.1:p.Met230Ile	CA367644657 NM_001024944.2:c.690G>A CA367644660 NM_001024944.2:c.690G>C CA367644662 NM_001024944.2:c.690G>T