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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:
PA2827309104
Gene: NRXN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1420020
ClinVar RCV Id:
RCV001943438
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317019.1:p.Arg85His
CA48054927
NM_001330090.2:c.254G>A