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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:
CA2545218368
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.174729536_174729538del , CM000664.2:g.174729536_174729538del
GRCh38
NC_000002.11:g.175594264_175594266del , CM000664.1:g.175594264_175594266del
GRCh37
NC_000002.10:g.175302510_175302512del
NCBI36
Search 100 bp 5'
Search 100 bp 3'