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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:
CA2162091023
Gene:
Linked Data
dbSNP Id:
rs2040895282
gnomAD v3:
14-106775817-TGA-T
gnomAD v4:
14-106775817-TGA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.106775821_106775822del , CM000676.2:g.106775821_106775822del
GRCh38
NC_000014.7:g.106255105_106255106del
NCBI36
Search 100 bp 5'
Search 100 bp 3'