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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:
CA1941450017
Gene:
Linked Data
dbSNP Id:
rs2097470088
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.122446158dup , CM000672.2:g.122446158dup
GRCh38
NC_000010.10:g.124205674dup , CM000672.1:g.124205674dup
GRCh37
NC_000010.9:g.124195664dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'