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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:
CA1212262372
Gene:
Linked Data
dbSNP Id:
rs1654942369
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.184325029dup , CM000663.2:g.184325029dup
GRCh38
NC_000001.10:g.184294163dup , CM000663.1:g.184294163dup
GRCh37
NC_000001.9:g.182560786dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'