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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:
CA2568898860
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.74747061_74747062insATGG , CM000677.2:g.74747061_74747062insATGG
GRCh38
NC_000015.9:g.75039402_75039403insATGG , CM000677.1:g.75039402_75039403insATGG
GRCh37
NC_000015.8:g.72826455_72826456insATGG
NCBI36
NG_008431.1:g.29520_29521insATGG
NG_008431.2:g.29520_29521insATGG
NG_061543.1:g.3217_3218insATGG
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