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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:
CA2759342026
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169764567_169764570del , CM000665.2:g.169764567_169764570del
GRCh38
NC_000003.11:g.169482355_169482358del , CM000665.1:g.169482355_169482358del
GRCh37
NC_000003.10:g.170965049_170965052del
NCBI36
NG_016363.1:g.5491_5494del , LRG_347:g.5491_5494del
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