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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:
CA1652504232
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.104412297_104412307delinsGTCCCAGCTGC , CM000668.2:g.104412297_104412307delinsGTCCCAGCTGC
GRCh38
NC_000006.11:g.104860172_104860182delinsGTCCCAGCTGC , CM000668.1:g.104860172_104860182delinsGTCCCAGCTGC
GRCh37
NC_000006.10:g.104966865_104966875delinsGTCCCAGCTGC
NCBI36
Search 100 bp 5'
Search 100 bp 3'