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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:
CA1439322648
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.12767444_12767445delinsAT , CM000666.2:g.12767444_12767445delinsAT
GRCh38
NC_000004.11:g.12769068_12769069delinsAT , CM000666.1:g.12769068_12769069delinsAT
GRCh37
NC_000004.10:g.12378166_12378167delinsAT
NCBI36
Search 100 bp 5'
Search 100 bp 3'