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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:
CA2053294047
Gene:
Linked Data
dbSNP Id:
rs1870328694
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.88905775_88905779del , CM000674.2:g.88905775_88905779del
GRCh38
NC_000012.11:g.89299552_89299556del , CM000674.1:g.89299552_89299556del
GRCh37
NC_000012.10:g.87823683_87823687del
NCBI36
Search 100 bp 5'
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