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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:
CA1295323134
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.145367803_145367806delinsCAAA , CM000664.2:g.145367803_145367806delinsCAAA
GRCh38
NC_000002.11:g.146125371_146125374delinsCAAA , CM000664.1:g.146125371_146125374delinsCAAA
GRCh37
NC_000002.10:g.145841841_145841844delinsCAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'