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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:
CA2531220452
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.121393765_121393793dup , CM000672.2:g.121393765_121393793dup
GRCh38
NC_000010.10:g.123153279_123153307dup , CM000672.1:g.123153279_123153307dup
GRCh37
NC_000010.9:g.123143269_123143297dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'