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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:
CA2529191289
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.76148543_76148544del , CM000664.2:g.76148543_76148544del
GRCh38
NC_000002.11:g.76375669_76375670del , CM000664.1:g.76375669_76375670del
GRCh37
NC_000002.10:g.76229177_76229178del
NCBI36
Search 100 bp 5'
Search 100 bp 3'