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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:
CA185919721
Gene:
Linked Data
dbSNP Id:
rs538392846
gnomAD v3:
8-128907064-ATATCT-A
gnomAD v4:
8-128907064-ATATCT-A
MyVariant Identifiers:
chr8:g.129919311_129919315del (hg19)
chr8:g.128907065_128907069del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.128907068_128907072del , CM000670.2:g.128907068_128907072del
GRCh38
NC_000008.10:g.129919314_129919318del , CM000670.1:g.129919314_129919318del
GRCh37
NC_000008.9:g.129988496_129988500del
NCBI36
Search 100 bp 5'
Search 100 bp 3'