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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:
CA2391131879
Gene:
Linked Data
dbSNP Id:
rs1985818441
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.43172975dup , CM000683.2:g.43172975dup
GRCh38
NG_009823.1:g.8945dup
Search 100 bp 5'
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