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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:
CA761453541
Gene:
Linked Data
dbSNP Id:
rs1332408388
gnomAD v3:
2-180211970-CT-C
gnomAD v4:
2-180211970-CT-C
MyVariant Identifiers:
chr2:g.181076698del (hg19)
chr2:g.180211971del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.180211974del , CM000664.2:g.180211974del
GRCh38
NC_000002.11:g.181076701del , CM000664.1:g.181076701del
GRCh37
NC_000002.10:g.180784946del
NCBI36
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