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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:
CA2051218441
Gene:
Linked Data
dbSNP Id:
rs1872759816
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.84526587_84526597del , CM000674.2:g.84526587_84526597del
GRCh38
NC_000012.11:g.84920366_84920376del , CM000674.1:g.84920366_84920376del
GRCh37
NC_000012.10:g.83444497_83444507del
NCBI36
Search 100 bp 5'
Search 100 bp 3'