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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:
CA1030641200
Gene: NRXN1-DT
HGNC
NCBI
Linked Data
gnomAD v3:
2-51936113-A-ATAT
gnomAD v4:
2-51936113-A-ATAT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.51936113_51936114insTAT , CM000664.2:g.51936113_51936114insTAT
GRCh38
NC_000002.11:g.52163251_52163252insTAT , CM000664.1:g.52163251_52163252insTAT
GRCh37
NC_000002.10:g.52016755_52016756insTAT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_245003.1:n.879+74625_879+74626insTAT
NR_135237.1:n.879+74625_879+74626insTAT
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