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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:
CA2224391473
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.56960265_56960274delinsAGTGGCAAGT , CM000678.2:g.56960265_56960274delinsAGTGGCAAGT
GRCh38
NC_000016.9:g.56994177_56994186delinsAGTGGCAAGT , CM000678.1:g.56994177_56994186delinsAGTGGCAAGT
GRCh37
NC_000016.8:g.55551678_55551687delinsAGTGGCAAGT
NCBI36
NG_008952.1:g.3343_3352delinsAGTGGCAAGT
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