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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:
CA55288798
Gene:
Linked Data
dbSNP Id:
rs570622795
gnomAD v2:
2-119546028-CAG-C
gnomAD v3:
2-118788452-CAG-C
gnomAD v4:
2-118788452-CAG-C
MyVariant Identifiers:
chr2:g.119546029_119546030del (hg19)
chr2:g.118788453_118788454del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.118788455_118788456del , CM000664.2:g.118788455_118788456del
GRCh38
NC_000002.11:g.119546031_119546032del , CM000664.1:g.119546031_119546032del
GRCh37
NC_000002.10:g.119262501_119262502del
NCBI36
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