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: PA2573232609

Gene: RECQL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1386334

ClinVar RCV Id: RCV001875277

ClinVar Variation Id: 1481370

ClinVar RCV Id: RCV002022282

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004251.4:p.Lys382Asn	CA4949009 NM_004260.4:c.1146G>T CA4949010 NM_004260.4:c.1146G>C