Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2829492296

Gene: RECQL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2075664

ClinVar RCV Id: RCV002967898

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004251.4:p.Gly477Arg	CA372684871 NM_004260.4:c.1429G>C CA372684880 NM_004260.4:c.1429G>A