×
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.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830306200
Gene: RBFOX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
383748
ClinVar RCV Id:
RCV000443683
RCV003638654
RCV004022378
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_665899.1:p.Arg138Gln
CA16607419
NM_145892.2:c.413G>A