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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
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Canonical Allele Identifier:
CA1250398302
Gene: NRXN1-DT
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.51936323_51936326delinsTATG , CM000664.2:g.51936323_51936326delinsTATG
GRCh38
NC_000002.11:g.52163461_52163464delinsTATG , CM000664.1:g.52163461_52163464delinsTATG
GRCh37
NC_000002.10:g.52016965_52016968delinsTATG
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_245003.1:n.879+74835_879+74838delinsTATG
NR_135237.1:n.879+74835_879+74838delinsTATG
Search 100 bp 5'
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