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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:
CA1061039404
Gene:
Linked Data
dbSNP Id:
rs1717109955
gnomAD v3:
4-34892134-TAAC-T
gnomAD v4:
4-34892134-TAAC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.34892137_34892139del , CM000666.2:g.34892137_34892139del
GRCh38
NC_000004.11:g.34893759_34893761del , CM000666.1:g.34893759_34893761del
GRCh37
NC_000004.10:g.34570154_34570156del
NCBI36
Search 100 bp 5'
Search 100 bp 3'