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: PA2573232804

Gene: RECQL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1482228

ClinVar RCV Id: RCV002025120

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004251.4:p.Ala488Val	CA372684632 NM_004260.4:c.1463C>T