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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:
CA1789126719
Gene:
Linked Data
dbSNP Id:
rs1804323322
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.63477353_63477356dup , CM000670.2:g.63477353_63477356dup
GRCh38
NC_000008.10:g.64389911_64389914dup , CM000670.1:g.64389911_64389914dup
GRCh37
NC_000008.9:g.64552465_64552468dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'