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: PA2828829140

Gene: RFX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 7648

ClinVar RCV Id: RCV000693554 RCV004556040

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001366345.1:p.Arg149Gln	CA118952 NM_001379416.1:c.446G>A