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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:
CA1259764419
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.70872940_70872946delinsCTGTGTG , CM000664.2:g.70872940_70872946delinsCTGTGTG
GRCh38
NC_000002.11:g.71100070_71100076delinsCTGTGTG , CM000664.1:g.71100070_71100076delinsCTGTGTG
GRCh37
NC_000002.10:g.70953578_70953584delinsCTGTGTG
NCBI36
Search 100 bp 5'
Search 100 bp 3'