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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:
CA1490423047
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.122759866_122759869delinsCCTT , CM000666.2:g.122759866_122759869delinsCCTT
GRCh38
NC_000004.11:g.123681021_123681024delinsCCTT , CM000666.1:g.123681021_123681024delinsCCTT
GRCh37
NC_000004.10:g.123900471_123900474delinsCCTT
NCBI36
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