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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:
CA2116527737
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.105545819_105545822delinsGCTT , CM000675.2:g.105545819_105545822delinsGCTT
GRCh38
NC_000013.10:g.106198168_106198171delinsGCTT , CM000675.1:g.106198168_106198171delinsGCTT
GRCh37
NC_000013.9:g.104996169_104996172delinsGCTT
NCBI36
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