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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:
CA1363888218
Gene:
Linked Data
dbSNP Id:
rs1702545194
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.50314700_50314701del , CM000665.2:g.50314700_50314701del
GRCh38
NC_000003.11:g.50352131_50352132del , CM000665.1:g.50352131_50352132del
GRCh37
NC_000003.10:g.50327135_50327136del
NCBI36
NG_009295.1:g.2682_2683del
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