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: PA350590

Gene: SERPINA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 219366

ClinVar RCV Id: RCV000206568

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121173.1:p.Met245Ile	CA350589 NM_001127701.2:c.735G>A CA390848830 NM_001127701.2:c.735G>C CA390848832 NM_001127701.2:c.735G>T