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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:
CA2770507822
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31376872_31376876dup , CM000668.2:g.31376872_31376876dup
GRCh38
NC_000006.11:g.31344649_31344653dup , CM000668.1:g.31344649_31344653dup
GRCh37
NC_000006.10:g.31452628_31452632dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'