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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:
CA2138215537
Gene:
Linked Data
dbSNP Id:
rs2039539368
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.54839730_54839731del , CM000676.2:g.54839730_54839731del
GRCh38
NC_000014.8:g.55306448_55306449del , CM000676.1:g.55306448_55306449del
GRCh37
NC_000014.7:g.54376198_54376199del
NCBI36
Search 100 bp 5'
Search 100 bp 3'