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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:
CA2703653919
Gene:
Linked Data
dbSNP Id:
rs1229166933
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.128541664_128541665dup , CM000665.2:g.128541664_128541665dup
GRCh38
NC_000003.11:g.128260507_128260508dup , CM000665.1:g.128260507_128260508dup
GRCh37
NC_000003.10:g.129743197_129743198dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'