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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:
CA2623554554
Gene:
Linked Data
gnomAD v4:
13-100088946-C-CTCCCGGA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.100088957_100088963dup , CM000675.2:g.100088957_100088963dup
GRCh38
NC_000013.10:g.100741211_100741217dup , CM000675.1:g.100741211_100741217dup
GRCh37
NC_000013.9:g.99539212_99539218dup
NCBI36
NG_008768.1:g.4875_4881dup
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