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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:
CA532045129
Gene:
Linked Data
dbSNP Id:
rs68017782
gnomAD v2:
2-36363673-G-GAA
gnomAD v3:
2-36136530-G-GAA
gnomAD v4:
2-36136530-G-GAA
MyVariant Identifiers:
chr2:g.36363674_36363675insAA (hg19)
chr2:g.36363673_36363674insAA (hg19)
chr2:g.36136531_36136532insAA (hg38)
chr2:g.36136530_36136531insAA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.36136539_36136540dup , CM000664.2:g.36136539_36136540dup
GRCh38
NC_000002.11:g.36363682_36363683dup , CM000664.1:g.36363682_36363683dup
GRCh37
NC_000002.10:g.36217186_36217187dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'