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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:
CA717519492
Gene: NR2F2-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1432680665
gnomAD v3:
15-96287128-TCTAA-T
gnomAD v4:
15-96287128-TCTAA-T
MyVariant Identifiers:
chr15:g.96830358_96830361del (hg19)
chr15:g.96287129_96287132del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.96287136_96287139del , CM000677.2:g.96287136_96287139del
GRCh38
NC_000015.9:g.96830365_96830368del , CM000677.1:g.96830365_96830368del
GRCh37
NC_000015.8:g.94631369_94631372del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_102743.1:n.409+1532_409+1535del
NR_125738.1:n.317+3498_317+3501del
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