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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:
CA2614206100
Gene:
Linked Data
gnomAD v4:
11-64803398-CGCGCTCCACAGGTAGGGAGCGCAAAGTCCCGGGAGCCAGAAGACAGAGGGAAGAGGGG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.64803408_64803465del , CM000673.2:g.64803408_64803465del
GRCh38
NC_000011.9:g.64570880_64570937del , CM000673.1:g.64570880_64570937del
GRCh37
NC_000011.8:g.64327456_64327513del
NCBI36
NG_008929.1:g.12839_12896del , LRG_509:g.12839_12896del
NG_033040.1:g.4786_4843del
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