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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:
CA2400653146
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.29603505_29603507delinsCTG , CM000684.2:g.29603505_29603507delinsCTG
GRCh38
NC_000022.10:g.29999494_29999496delinsCTG , CM000684.1:g.29999494_29999496delinsCTG
GRCh37
NC_000022.9:g.28329494_28329496delinsCTG
NCBI36
NG_009057.1:g.4950_4952delinsCTG , LRG_511:g.4950_4952delinsCTG
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