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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:
CA2146453797
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.73136395_73136398delinsCCCT , CM000676.2:g.73136395_73136398delinsCCCT
GRCh38
NC_000014.8:g.73603103_73603106delinsCCCT , CM000676.1:g.73603103_73603106delinsCCCT
GRCh37
NC_000014.7:g.72672856_72672859delinsCCCT
NCBI36
NG_007386.2:g.4925_4928delinsCCCT
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