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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:
CA2443276979
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.87935379_87935382delinsCCTT , CM000685.2:g.87935379_87935382delinsCCTT
GRCh38
NC_000023.10:g.87190379_87190382delinsCCTT , CM000685.1:g.87190379_87190382delinsCCTT
GRCh37
NC_000023.9:g.87077035_87077038delinsCCTT
NCBI36
Search 100 bp 5'
Search 100 bp 3'