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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:
CA916761811
Gene:
Linked Data
dbSNP Id:
rs10713206
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.207629475_207629482dup , CM000664.2:g.207629475_207629482dup
GRCh38
NC_000002.11:g.208494199_208494206dup , CM000664.1:g.208494199_208494206dup
GRCh37
NC_000002.10:g.208202444_208202451dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'