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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:
CA917823902
Gene:
Linked Data
dbSNP Id:
rs1582398133
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.104412325_104412327del , CM000668.2:g.104412325_104412327del
GRCh38
NC_000006.11:g.104860200_104860202del , CM000668.1:g.104860200_104860202del
GRCh37
NC_000006.10:g.104966893_104966895del
NCBI36
Search 100 bp 5'
Search 100 bp 3'