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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:
CA1489446675
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.120592126_120592132delinsTCTCCTC , CM000666.2:g.120592126_120592132delinsTCTCCTC
GRCh38
NC_000004.11:g.121513281_121513287delinsTCTCCTC , CM000666.1:g.121513281_121513287delinsTCTCCTC
GRCh37
NC_000004.10:g.121732731_121732737delinsTCTCCTC
NCBI36
Search 100 bp 5'
Search 100 bp 3'