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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:
PA2827302208
Gene: NRXN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2830010
ClinVar RCV Id:
RCV003620977
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317016.1:p.Thr84Ser
CA48054928
NM_001330087.2:c.250A>T