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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:
CA1011543062
Gene:
Linked Data
gnomAD v3:
1-206117860-TG-T
gnomAD v4:
1-206117860-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.206117863del , CM000663.2:g.206117863del
GRCh38
NC_000001.10:g.206223470del , CM000663.1:g.206223470del
GRCh37
NC_000001.9:g.204390093del
NCBI36
Search 100 bp 5'
Search 100 bp 3'