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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:
CA919422550
Gene:
Linked Data
dbSNP Id:
rs1566690270
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.54912160_54912163dup , CM000676.2:g.54912160_54912163dup
GRCh38
NC_000014.8:g.55378878_55378881dup , CM000676.1:g.55378878_55378881dup
GRCh37
NC_000014.7:g.54448628_54448631dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'