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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:
CA1490352444
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.122593273_122593275delinsCAT , CM000666.2:g.122593273_122593275delinsCAT
GRCh38
NC_000004.11:g.123514428_123514430delinsCAT , CM000666.1:g.123514428_123514430delinsCAT
GRCh37
NC_000004.10:g.123733878_123733880delinsCAT
NCBI36
Search 100 bp 5'
Search 100 bp 3'