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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:
CA48266119
Gene: NRXN1-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs574757117
gnomAD v2:
2-52163476-G-GA
gnomAD v3:
2-51936338-G-GA
gnomAD v4:
2-51936338-G-GA
MyVariant Identifiers:
chr2:g.52163477_52163478insA (hg19)
chr2:g.52163476_52163477insA (hg19)
chr2:g.51936339_51936340insA (hg38)
chr2:g.51936338_51936339insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.51936351dup , CM000664.2:g.51936351dup
GRCh38
NC_000002.11:g.52163489dup , CM000664.1:g.52163489dup
GRCh37
NC_000002.10:g.52016993dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_245003.1:n.879+74863dup
NR_135237.1:n.879+74863dup
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