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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:
CA591455261
Gene:
Linked Data
dbSNP Id:
rs34118748
gnomAD v2:
10-6124258-C-CTT
gnomAD v3:
10-6082295-C-CTT
gnomAD v4:
10-6082295-C-CTT
MyVariant Identifiers:
chr10:g.6124260_6124261insTT (hg19)
chr10:g.6124258_6124259insTT (hg19)
chr10:g.6082297_6082298insTT (hg38)
chr10:g.6082295_6082296insTT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.6082306_6082307dup , CM000672.2:g.6082306_6082307dup
GRCh38
NC_000010.10:g.6124269_6124270dup , CM000672.1:g.6124269_6124270dup
GRCh37
NC_000010.9:g.6164275_6164276dup
NCBI36
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