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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:
CA2528374912
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.41333898_41333899insAAAA , CM000676.2:g.41333898_41333899insAAAA
GRCh38
NC_000014.8:g.41803101_41803102insAAAA , CM000676.1:g.41803101_41803102insAAAA
GRCh37
NC_000014.7:g.40872851_40872852insAAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'