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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:
CA1087487377
Gene:
Linked Data
dbSNP Id:
rs1816685591
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31826689_31826690dup , CM000668.2:g.31826689_31826690dup
GRCh38
NC_000006.11:g.31794466_31794467dup , CM000668.1:g.31794466_31794467dup
GRCh37
NC_000006.10:g.31902445_31902446dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'