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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:
CA2523647067
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127505403_127505404dup , CM000670.2:g.127505403_127505404dup
GRCh38
NC_000008.10:g.128517648_128517649dup , CM000670.1:g.128517648_128517649dup
GRCh37
NC_000008.9:g.128586830_128586831dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'