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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:
CA2056514578
Gene:
Linked Data
dbSNP Id:
rs1950714492
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.96044596del , CM000674.2:g.96044596del
GRCh38
NC_000012.11:g.96438374del , CM000674.1:g.96438374del
GRCh37
NC_000012.10:g.94962505del
NCBI36
Search 100 bp 5'
Search 100 bp 3'