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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:
CA1521247152
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.188940050_188940053delinsTAAA , CM000666.2:g.188940050_188940053delinsTAAA
GRCh38
NC_000004.11:g.189861204_189861207delinsTAAA , CM000666.1:g.189861204_189861207delinsTAAA
GRCh37
NC_000004.10:g.190098198_190098201delinsTAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'