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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:
CA948842838
Gene:
Linked Data
gnomAD v3:
12-68567702-C-CAAAAAAAAAAAA
gnomAD v4:
12-68567702-C-CAAAAAAAAAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.68567707_68567718dup , CM000674.2:g.68567707_68567718dup
GRCh38
NC_000012.11:g.68961487_68961498dup , CM000674.1:g.68961487_68961498dup
GRCh37
NC_000012.10:g.67247754_67247765dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'