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: PA2825844117

Gene: RBFOX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 383748

ClinVar RCV Id: RCV000443683 RCV003638654 RCV004022378

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001135806.1:p.Arg118Gln	CA16607419 NM_001142334.2:c.353G>A