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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:
CA2538947694
Gene: NRXN1-DT
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.51936335_51936341del , CM000664.2:g.51936335_51936341del
GRCh38
NC_000002.11:g.52163473_52163479del , CM000664.1:g.52163473_52163479del
GRCh37
NC_000002.10:g.52016977_52016983del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_245003.1:n.879+74847_879+74853del
NR_135237.1:n.879+74847_879+74853del
Search 100 bp 5'
Search 100 bp 3'