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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:
PA2825797373
Gene: NRXN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1494601
ClinVar RCV Id:
RCV001989468
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129131.1:p.Thr84Arg
CA346824376
NM_001135659.2:c.251C>G