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: PA2825164270

Gene: HLCS HGNC NCBI

Linked Data

ClinVar Variation Id: 965102

ClinVar RCV Id: RCV001239463

ClinVar Variation Id: 1199286

ClinVar RCV Id: RCV001563772

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000402.3:p.Gly325Arg	CA10020579 NM_000411.8:c.973G>A CA409911904 NM_000411.8:c.973G>C