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: PA1139712995

Gene: RECQL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 841982

ClinVar RCV Id: RCV001044311

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004251.4:p.Ser497Tyr	CA372684331 NM_004260.4:c.1490C>A