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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:
PA2827319165
Gene: NRXN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
954221
ClinVar RCV Id:
RCV001226641
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317024.1:p.Gly86Ser
CA346824368
NM_001330095.2:c.256G>A