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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:
CA607349769
Gene:
Linked Data
dbSNP Id:
rs1163443889
gnomAD v2:
12-112072356-T-TAA
gnomAD v3:
12-111634552-T-TAA
gnomAD v4:
12-111634552-T-TAA
MyVariant Identifiers:
chr12:g.112072356_112072357insAA (hg19)
chr12:g.111634552_111634553insAA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.111634553_111634554insAA , CM000674.2:g.111634553_111634554insAA
GRCh38
NC_000012.11:g.112072357_112072358insAA , CM000674.1:g.112072357_112072358insAA
GRCh37
NC_000012.10:g.110556740_110556741insAA
NCBI36
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