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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:
CA530984107
Gene:
Linked Data
dbSNP Id:
rs1180390075
gnomAD v2:
2-22568655-TAAAC-T
gnomAD v3:
2-22345783-TAAAC-T
gnomAD v4:
2-22345783-TAAAC-T
MyVariant Identifiers:
chr2:g.22568656_22568659del (hg19)
chr2:g.22345784_22345787del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.22345787_22345790del , CM000664.2:g.22345787_22345790del
GRCh38
NC_000002.11:g.22568659_22568662del , CM000664.1:g.22568659_22568662del
GRCh37
NC_000002.10:g.22422164_22422167del
NCBI36
Search 100 bp 5'
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