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: PA2826273268

Gene: BIVM-ERCC5 HGNC NCBI

Linked Data

ClinVar Variation Id: 881520

ClinVar RCV Id: RCV001110573

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001191354.2:p.Ser1045Arg	CA388574293 NM_001204425.2:c.3133A>C CA388574302 NM_001204425.2:c.3135T>A CA388574304 NM_001204425.2:c.3135T>G