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 allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2573300127

Gene: NACC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1467874

ClinVar RCV Id: RCV001970510

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_443108.1:p.Val73Leu	CA404324689 NM_052876.4:c.217G>T CA404324690 NM_052876.4:c.217G>C