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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:
CA2063392180
Gene:
Linked Data
dbSNP Id:
rs1885779953
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.111634621_111634622insAGT , CM000674.2:g.111634621_111634622insAGT
GRCh38
NC_000012.11:g.112072425_112072426insAGT , CM000674.1:g.112072425_112072426insAGT
GRCh37
NC_000012.10:g.110556808_110556809insAGT
NCBI36
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