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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:
CA2776307351
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.68355059_68355061del , CM000669.2:g.68355059_68355061del
GRCh38
NC_000007.13:g.67820046_67820048del , CM000669.1:g.67820046_67820048del
GRCh37
NC_000007.12:g.67457982_67457984del
NCBI36
Search 100 bp 5'
Search 100 bp 3'