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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:
CA2530564368
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.132397546_132397547insCAT , CM000667.2:g.132397546_132397547insCAT
GRCh38
NC_000005.9:g.131733238_131733239insCAT , CM000667.1:g.131733238_131733239insCAT
GRCh37
NC_000005.8:g.131761137_131761138insCAT
NCBI36
NG_008982.1:g.32838_32839insCAT
NG_008982.2:g.32843_32844insCAT
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