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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:
CA2612161651
Gene:
Linked Data
gnomAD v4:
11-5225083-TC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.5225084del , CM000673.2:g.5225084del
GRCh38
NC_000011.9:g.5246314del , CM000673.1:g.5246314del
GRCh37
NC_000011.8:g.5202890del
NCBI36
NG_000007.3:g.72532del
NG_059281.1:g.6988del
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