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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:
CA2072090760
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.130871532_130871540delinsCCCATTCAT , CM000674.2:g.130871532_130871540delinsCCCATTCAT
GRCh38
NC_000012.11:g.131356077_131356085delinsCCCATTCAT , CM000674.1:g.131356077_131356085delinsCCCATTCAT
GRCh37
NC_000012.10:g.129922030_129922038delinsCCCATTCAT
NCBI36
Search 100 bp 5'
Search 100 bp 3'