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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:
CA2574622138
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.94762630_94762631dup , CM000672.2:g.94762630_94762631dup
GRCh38
NC_000010.10:g.96522387_96522388dup , CM000672.1:g.96522387_96522388dup
GRCh37
NC_000010.9:g.96512377_96512378dup
NCBI36
NG_008384.2:g.4925_4926dup
NG_008384.3:g.4950_4951dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000464755.1:c.932-12428_932-12427dup
ENSP00000483243.1:n.932-12428_932-12427du...
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