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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:
CA2525356836
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.94059401_94059405del , CM000674.2:g.94059401_94059405del
GRCh38
NC_000012.11:g.94453177_94453181del , CM000674.1:g.94453177_94453181del
GRCh37
NC_000012.10:g.92977308_92977312del
NCBI36
Search 100 bp 5'
Search 100 bp 3'