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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:
CA1628073536
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.50853241_50853242delinsCT , CM000668.2:g.50853241_50853242delinsCT
GRCh38
NC_000006.11:g.50820954_50820955delinsCT , CM000668.1:g.50820954_50820955delinsCT
GRCh37
NC_000006.10:g.50928913_50928914delinsCT
NCBI36
Search 100 bp 5'
Search 100 bp 3'