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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:
CA2749914353
Gene: NRXN1-DT
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.51845123del , CM000664.2:g.51845123del
GRCh38
NC_000002.11:g.52072261del , CM000664.1:g.52072261del
GRCh37
NC_000002.10:g.51925765del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_245003.1:n.840-16326del
NR_135237.1:n.840-16326del
Search 100 bp 5'
Search 100 bp 3'