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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:
CA2695202641
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.7582934_7587655del , CM000668.2:g.7582934_7587655del
GRCh38
NC_000006.11:g.7583167_7587888del , CM000668.1:g.7583167_7587888del
GRCh37
NC_000006.10:g.7528166_7532887del
NCBI36
NG_008803.1:g.46298_51019del , LRG_423:g.46298_51019del
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