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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:
CA1918404054
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.70767557_70767582delinsGGCCACAGAGTGGAACATGTCTCAAA , CM000672.2:g.70767557_70767582delinsGGCCACAGAGTGGAACATGTCTCAAA
GRCh38
NC_000010.10:g.72527313_72527338delinsGGCCACAGAGTGGAACATGTCTCAAA , CM000672.1:g.72527313_72527338delinsGGCCACAGAGTGGAACATGTCTCAAA
GRCh37
NC_000010.9:g.72197319_72197344delinsGGCCACAGAGTGGAACATGTCTCAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'