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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:
CA2307304284
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.60262201_60262204delinsTGTG , CM000680.2:g.60262201_60262204delinsTGTG
GRCh38
NC_000018.9:g.57929434_57929437delinsTGTG , CM000680.1:g.57929434_57929437delinsTGTG
GRCh37
NC_000018.8:g.56080414_56080417delinsTGTG
NCBI36
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