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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:
CA2540507632
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.34438522dup , CM000673.2:g.34438522dup
GRCh38
NC_000011.9:g.34460069dup , CM000673.1:g.34460069dup
GRCh37
NC_000011.8:g.34416645dup
NCBI36
NG_013339.1:g.4598dup
NG_013339.2:g.4598dup
Search 100 bp 5'
Search 100 bp 3'