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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:
CA1788190740
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.60963583_60963585delinsCTG , CM000670.2:g.60963583_60963585delinsCTG
GRCh38
NC_000008.10:g.61876142_61876144delinsCTG , CM000670.1:g.61876142_61876144delinsCTG
GRCh37
NC_000008.9:g.62038696_62038698delinsCTG
NCBI36
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