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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:
CA61286408
Gene:
Linked Data
dbSNP Id:
rs376327286
gnomAD v2:
2-176717633-T-TAC
gnomAD v3:
2-175852905-T-TAC
gnomAD v4:
2-175852905-T-TAC
MyVariant Identifiers:
chr2:g.176717635_176717636insAC (hg19)
chr2:g.176717633_176717634insAC (hg19)
chr2:g.175852907_175852908insAC (hg38)
chr2:g.175852905_175852906insAC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.175852917_175852918dup , CM000664.2:g.175852917_175852918dup
GRCh38
NC_000002.11:g.176717645_176717646dup , CM000664.1:g.176717645_176717646dup
GRCh37
NC_000002.10:g.176425891_176425892dup
NCBI36
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