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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
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Canonical Allele Identifier:
PA2827298847
Gene: NRXN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1055614
ClinVar RCV Id:
RCV001364314
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317015.1:p.Ile119Val
CA346824178
NM_001330086.2:c.355A>G