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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:
CA2559148831
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.85555303_85555304insTTG , CM000670.2:g.85555303_85555304insTTG
GRCh38
NC_000008.10:g.86467532_86467533insTTG , CM000670.1:g.86467532_86467533insTTG
GRCh37
NC_000008.9:g.86654784_86654785insTTG
NCBI36
Search 100 bp 5'
Search 100 bp 3'