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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:
CA2032069530
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.42767022_42767023delinsTC , CM000674.2:g.42767022_42767023delinsTC
GRCh38
NC_000012.11:g.43160824_43160825delinsTC , CM000674.1:g.43160824_43160825delinsTC
GRCh37
NC_000012.10:g.41447091_41447092delinsTC
NCBI36
Search 100 bp 5'
Search 100 bp 3'