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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:
CA2770551354
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32702406_32702409del , CM000668.2:g.32702406_32702409del
GRCh38
NC_000006.11:g.32670183_32670186del , CM000668.1:g.32670183_32670186del
GRCh37
NC_000006.10:g.32778161_32778164del
NCBI36
Search 100 bp 5'
Search 100 bp 3'