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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:
CA1102615890
Gene:
Linked Data
dbSNP Id:
rs1209784122
gnomAD v3:
7-68355062-C-CAA
gnomAD v4:
7-68355062-C-CAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.68355074_68355075dup , CM000669.2:g.68355074_68355075dup
GRCh38
NC_000007.13:g.67820061_67820062dup , CM000669.1:g.67820061_67820062dup
GRCh37
NC_000007.12:g.67457997_67457998dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'