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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:
CA287437050
Gene:
Linked Data
dbSNP Id:
rs902455652
gnomAD v2:
17-7069388-TTATTC-T
gnomAD v3:
17-7166069-TTATTC-T
gnomAD v4:
17-7166069-TTATTC-T
MyVariant Identifiers:
chr17:g.7069389_7069393del (hg19)
chr17:g.7166070_7166074del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.7166073_7166077del , CM000679.2:g.7166073_7166077del
GRCh38
NC_000017.10:g.7069392_7069396del , CM000679.1:g.7069392_7069396del
GRCh37
NC_000017.9:g.7010116_7010120del
NCBI36
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