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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:
CA775505830
Gene:
Linked Data
dbSNP Id:
rs1294528433
MyVariant Identifiers:
chr17:g.78075310_78075311insCCCACCGCGGC (hg19)
chr17:g.80101511_80101512insCCCACCGCGGC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.80101515_80101525dup , CM000679.2:g.80101515_80101525dup
GRCh38
NC_000017.10:g.78075314_78075324dup , CM000679.1:g.78075314_78075324dup
GRCh37
NC_000017.9:g.75689909_75689919dup
NCBI36
NG_009822.1:g.4960_4970dup , LRG_673:g.4960_4970dup
NG_029761.1:g.69884_69894dup
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