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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
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Canonical Allele Identifier:
CA1918404056
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.70767558_70767582delinsGCCACAGAGTGGAACATGTCTCAAA , CM000672.2:g.70767558_70767582delinsGCCACAGAGTGGAACATGTCTCAAA
GRCh38
NC_000010.10:g.72527314_72527338delinsGCCACAGAGTGGAACATGTCTCAAA , CM000672.1:g.72527314_72527338delinsGCCACAGAGTGGAACATGTCTCAAA
GRCh37
NC_000010.9:g.72197320_72197344delinsGCCACAGAGTGGAACATGTCTCAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'