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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:
CA2749916567
Gene: NRXN1-DT
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.51936187del , CM000664.2:g.51936187del
GRCh38
NC_000002.11:g.52163325del , CM000664.1:g.52163325del
GRCh37
NC_000002.10:g.52016829del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_245003.1:n.879+74699del
NR_135237.1:n.879+74699del
Search 100 bp 5'
Search 100 bp 3'