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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:
CA2608893872
Gene:
Linked Data
gnomAD v4:
10-43076972-CACCCGCCTCCGGCCCCGCCTGGCCCACCCCTGGACCGCCCCCGCCCCGCCCCGCCCCT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.43076979_43077036del , CM000672.2:g.43076979_43077036del
GRCh38
NC_000010.10:g.43572427_43572484del , CM000672.1:g.43572427_43572484del
GRCh37
NC_000010.9:g.42892433_42892490del
NCBI36
NG_007489.1:g.4911_4968del , LRG_518:g.4911_4968del
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