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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:
CA554433244
Gene:
Linked Data
dbSNP Id:
rs201705129
gnomAD v2:
4-121513281-T-TCTC
gnomAD v3:
4-120592126-T-TCTC
gnomAD v4:
4-120592126-T-TCTC
MyVariant Identifiers:
chr4:g.121513284_121513285insCTC (hg19)
chr4:g.121513281_121513282insCTC (hg19)
chr4:g.120592129_120592130insCTC (hg38)
chr4:g.120592126_120592127insCTC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.120592141_120592143dup , CM000666.2:g.120592141_120592143dup
GRCh38
NC_000004.11:g.121513296_121513298dup , CM000666.1:g.121513296_121513298dup
GRCh37
NC_000004.10:g.121732746_121732748dup
NCBI36
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