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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:
CA2539499489
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30237257del , CM000679.2:g.30237257del
GRCh38
NC_000017.10:g.28564275del , CM000679.1:g.28564275del
GRCh37
NC_000017.9:g.25588401del
NCBI36
NG_011747.2:g.3684del
Transcript Alleles
HGVS
Amino-acid change
XR_934654.1:n.165+187del
XR_001752824.1:n.280+187del
Search 100 bp 5'
Search 100 bp 3'