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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:
CA2746602238
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.170600093_170600099del , CM000663.2:g.170600093_170600099del
GRCh38
NC_000001.10:g.170569234_170569240del , CM000663.1:g.170569234_170569240del
GRCh37
NC_000001.9:g.168835858_168835864del
NCBI36
Search 100 bp 5'
Search 100 bp 3'