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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:
CA2346676749
Gene:
Linked Data
dbSNP Id:
rs2087306654
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.3667749_3667750del , CM000682.2:g.3667749_3667750del
GRCh38
NC_000020.10:g.3648396_3648397del , CM000682.1:g.3648396_3648397del
GRCh37
NC_000020.9:g.3596396_3596397del
NCBI36
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