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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:
PA2827291288
Gene: NRXN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206237
ClinVar RCV Id:
RCV000188266
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317013.1:p.Arg118His
CA316123
NM_001330084.2:c.353G>A