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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:
CA1063785980
Gene:
Linked Data
gnomAD v3:
4-68793963-C-CAAGGAACATGCTTTCTCACATTCAGGAGGCTAGAAGT
gnomAD v4:
4-68793963-C-CAAGGAACATGCTTTCTCACATTCAGGAGGCTAGAAGT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.68793963_68793964insAAGGAACATGCTTTCTCACATTCAGGAGGCTAGAAGT , CM000666.2:g.68793963_68793964insAAGGAACATGCTTTCTCACATTCAGGAGGCTAGAAGT
GRCh38
NC_000004.11:g.69659681_69659682insAAGGAACATGCTTTCTCACATTCAGGAGGCTAGAAGT , CM000666.1:g.69659681_69659682insAAGGAACATGCTTTCTCACATTCAGGAGGCTAGAAGT
GRCh37
NC_000004.10:g.69694270_69694271insAAGGAACATGCTTTCTCACATTCAGGAGGCTAGAAGT
NCBI36
Search 100 bp 5'
Search 100 bp 3'