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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:
CA1308261780
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.173462126_173462133delinsTGCTTGAG , CM000664.2:g.173462126_173462133delinsTGCTTGAG
GRCh38
NC_000002.11:g.174326854_174326861delinsTGCTTGAG , CM000664.1:g.174326854_174326861delinsTGCTTGAG
GRCh37
NC_000002.10:g.174035100_174035107delinsTGCTTGAG
NCBI36
Search 100 bp 5'
Search 100 bp 3'