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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:
PA2827312438
Gene: NRXN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3202233
ClinVar RCV Id:
RCV004493645
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317022.1:p.Arg120Cys
CA1655503
NM_001330093.2:c.358C>T