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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:
CA2365419484
Gene:
Linked Data
dbSNP Id:
rs1986670402
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.43666008del , CM000682.2:g.43666008del
GRCh38
NC_000020.10:g.42294648del , CM000682.1:g.42294648del
GRCh37
NC_000020.9:g.41728062del
NCBI36
Search 100 bp 5'
Search 100 bp 3'