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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:
CA2043759312
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.68161152_68161156delinsGTGTA , CM000674.2:g.68161152_68161156delinsGTGTA
GRCh38
NC_000012.11:g.68554932_68554936delinsGTGTA , CM000674.1:g.68554932_68554936delinsGTGTA
GRCh37
NC_000012.10:g.66841199_66841203delinsGTGTA
NCBI36
NG_015840.1:g.3586_3590delinsTACAC
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