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: PA2573085393

Gene: RECQL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 567838

ClinVar RCV Id: RCV000688024

ClinVar Variation Id: 2867301

ClinVar RCV Id: RCV003616964

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004251.4:p.Val364Leu	CA372688081 NM_004260.4:c.1090G>T CA372688083 NM_004260.4:c.1090G>C