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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:
CA2608893721
Gene:
Linked Data
gnomAD v4:
10-43076905-GCGCCGCGCCCCGGCCGCACCCCGCGCAGCCAGAGCAAGCACTGGAGCCCCGCCCCTTCCCGCACCCCACCCGCCTCCGGCCCCGCCTGGCCCACCCCTGGACCGCCCCCGCCC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.43076910_43077022del , CM000672.2:g.43076910_43077022del
GRCh38
NC_000010.10:g.43572358_43572470del , CM000672.1:g.43572358_43572470del
GRCh37
NC_000010.9:g.42892364_42892476del
NCBI36
NG_007489.1:g.4842_4954del , LRG_518:g.4842_4954del
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