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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:
CA573387872
Gene:
Linked Data
dbSNP Id:
rs1299144195
gnomAD v2:
7-26182891-C-CAA
gnomAD v3:
7-26143271-C-CAA
gnomAD v4:
7-26143271-C-CAA
MyVariant Identifiers:
chr7:g.26182891_26182892insAA (hg19)
chr7:g.26143271_26143272insAA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.26143272_26143273insAA , CM000669.2:g.26143272_26143273insAA
GRCh38
NC_000007.13:g.26182892_26182893insAA , CM000669.1:g.26182892_26182893insAA
GRCh37
NC_000007.12:g.26149417_26149418insAA
NCBI36
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