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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:
CA2538757639
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.173462163dup , CM000664.2:g.173462163dup
GRCh38
NC_000002.11:g.174326891dup , CM000664.1:g.174326891dup
GRCh37
NC_000002.10:g.174035137dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'