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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:
CA532206404
Gene:
Linked Data
dbSNP Id:
rs1188204587
gnomAD v2:
2-41761767-T-TG
gnomAD v3:
2-41534627-T-TG
gnomAD v4:
2-41534627-T-TG
MyVariant Identifiers:
chr2:g.41761767_41761768insG (hg19)
chr2:g.41534627_41534628insG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.41534632dup , CM000664.2:g.41534632dup
GRCh38
NC_000002.11:g.41761772dup , CM000664.1:g.41761772dup
GRCh37
NC_000002.10:g.41615276dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_939996.1:n.181+3098dup
XR_939997.1:n.146+3098dup
XR_939997.2:n.9529+3098dup
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