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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:
CA2036316815
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.52059511_52059513delinsTCA , CM000674.2:g.52059511_52059513delinsTCA
GRCh38
NC_000012.11:g.52453295_52453297delinsTCA , CM000674.1:g.52453295_52453297delinsTCA
GRCh37
NC_000012.10:g.50739562_50739564delinsTCA
NCBI36
Search 100 bp 5'
Search 100 bp 3'