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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:
CA1572634579
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.111131625_111131629delinsAAAGT , CM000667.2:g.111131625_111131629delinsAAAGT
GRCh38
NC_000005.9:g.110467323_110467327delinsAAAGT , CM000667.1:g.110467323_110467327delinsAAAGT
GRCh37
NC_000005.8:g.110495222_110495226delinsAAAGT
NCBI36
NG_008979.1:g.44454_44458delinsAAAGT
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