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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:
CA2355449247
Gene:
Linked Data
dbSNP Id:
rs1984798311
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.22587306_22587327del , CM000682.2:g.22587306_22587327del
GRCh38
NC_000020.10:g.22567944_22567965del , CM000682.1:g.22567944_22567965del
GRCh37
NC_000020.9:g.22515944_22515965del
NCBI36
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