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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:
CA2511486038
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.86032930_86032932del , CM000669.2:g.86032930_86032932del
GRCh38
NC_000007.13:g.85662246_85662248del , CM000669.1:g.85662246_85662248del
GRCh37
NC_000007.12:g.85500182_85500184del
NCBI36
Search 100 bp 5'
Search 100 bp 3'