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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:
CA534498848
Gene:
Linked Data
dbSNP Id:
rs1409907477
gnomAD v2:
2-88315616-C-CTA
gnomAD v3:
2-88016097-C-CTA
gnomAD v4:
2-88016097-C-CTA
MyVariant Identifiers:
chr2:g.88315616_88315617insTA (hg19)
chr2:g.88016097_88016098insTA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.88016099_88016100dup , CM000664.2:g.88016099_88016100dup
GRCh38
NC_000002.11:g.88315618_88315619dup , CM000664.1:g.88315618_88315619dup
GRCh37
NC_000002.10:g.88096733_88096734dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_940335.3:n.444_445dup
XR_940336.3:n.444_445dup
Search 100 bp 5'
Search 100 bp 3'