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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:
CA1030641612
Gene: NRXN1-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs1667868329
gnomAD v3:
2-51936337-T-TA
gnomAD v4:
2-51936337-T-TA
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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.51936337_51936338insA , CM000664.2:g.51936337_51936338insA
GRCh38
NC_000002.11:g.52163475_52163476insA , CM000664.1:g.52163475_52163476insA
GRCh37
NC_000002.10:g.52016979_52016980insA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_245003.1:n.879+74849_879+74850insA
NR_135237.1:n.879+74849_879+74850insA
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