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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:
CA1030640216
Gene: NRXN1-DT
HGNC
NCBI
Linked Data
gnomAD v3:
2-51936061-TGTATATATATATATGTATATATATATATGTATATATATATGTATATATATCA-T
gnomAD v4:
2-51936061-TGTATATATATATATGTATATATATATATGTATATATATATGTATATATATCA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.51936065_51936116del , CM000664.2:g.51936065_51936116del
GRCh38
NC_000002.11:g.52163203_52163254del , CM000664.1:g.52163203_52163254del
GRCh37
NC_000002.10:g.52016707_52016758del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_245003.1:n.879+74577_879+74628del
NR_135237.1:n.879+74577_879+74628del
Search 100 bp 5'
Search 100 bp 3'