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: PA1139710840

Gene: RECQL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 838594

ClinVar RCV Id: RCV001040174 RCV001356618

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004251.4:p.Gln28His	CA372693605 NM_004260.4:c.84G>T CA372693606 NM_004260.4:c.84G>C