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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:
CA2616055760
Gene:
Linked Data
gnomAD v4:
11-113974816-TAA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.113974819_113974820del , CM000673.2:g.113974819_113974820del
GRCh38
NC_000011.9:g.113845541_113845542del , CM000673.1:g.113845541_113845542del
GRCh37
NC_000011.8:g.113350751_113350752del
NCBI36
NG_013058.1:g.4745_4746del
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