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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:
CA1490423040
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.122759858_122759860delinsCTT , CM000666.2:g.122759858_122759860delinsCTT
GRCh38
NC_000004.11:g.123681013_123681015delinsCTT , CM000666.1:g.123681013_123681015delinsCTT
GRCh37
NC_000004.10:g.123900463_123900465delinsCTT
NCBI36
Search 100 bp 5'
Search 100 bp 3'