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: PA2580208559

Gene: HLCS HGNC NCBI

Linked Data

ClinVar Variation Id: 1944989

ClinVar RCV Id: RCV002663293

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339443.1:p.Asn303Lys	CA409912971 NM_001352514.2:c.909C>G CA409912972 NM_001352514.2:c.909C>A