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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:
CA847123202
Gene:
Linked Data
dbSNP Id:
rs1389335554
gnomAD v3:
8-127112528-ATAAATT-A
gnomAD v4:
8-127112528-ATAAATT-A
MyVariant Identifiers:
chr8:g.128124774_128124779del (hg19)
chr8:g.127112529_127112534del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127112533_127112538del , CM000670.2:g.127112533_127112538del
GRCh38
NC_000008.10:g.128124778_128124783del , CM000670.1:g.128124778_128124783del
GRCh37
NC_000008.9:g.128193960_128193965del
NCBI36
Search 100 bp 5'
Search 100 bp 3'