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: PA2825656652

Gene: SERPINA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 315029

ClinVar RCV Id: RCV000298466 RCV000734670

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121176.1:p.Ser71Arg	CA7327525 NM_001127704.2:c.211A>C CA390850549 NM_001127704.2:c.213C>G CA390850550 NM_001127704.2:c.213C>A