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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:
CA2116527738
Gene:
Linked Data
dbSNP Id:
rs1879703562
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.105545820_105545822del , CM000675.2:g.105545820_105545822del
GRCh38
NC_000013.10:g.106198169_106198171del , CM000675.1:g.106198169_106198171del
GRCh37
NC_000013.9:g.104996170_104996172del
NCBI36
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