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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:
CA1616586022
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.24646582_24646584delinsTTG , CM000668.2:g.24646582_24646584delinsTTG
GRCh38
NC_000006.11:g.24646810_24646812delinsTTG , CM000668.1:g.24646810_24646812delinsTTG
GRCh37
NC_000006.10:g.24754789_24754791delinsTTG
NCBI36
NG_016206.1:g.4572_4574delinsCAA
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