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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
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Canonical Allele Identifier:
CA1616585997
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.24646563_24646589delinsCCCCCAGCTTGTCCCCAGCTTGTGTCA , CM000668.2:g.24646563_24646589delinsCCCCCAGCTTGTCCCCAGCTTGTGTCA
GRCh38
NC_000006.11:g.24646791_24646817delinsCCCCCAGCTTGTCCCCAGCTTGTGTCA , CM000668.1:g.24646791_24646817delinsCCCCCAGCTTGTCCCCAGCTTGTGTCA
GRCh37
NC_000006.10:g.24754770_24754796delinsCCCCCAGCTTGTCCCCAGCTTGTGTCA
NCBI36
NG_016206.1:g.4567_4593delinsTGACACAAGCTGGGGACAAGCTGGGGG
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