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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:
CA2663247634
Gene:
Linked Data
gnomAD v4:
2-219418306-A-AGCTT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.219418309_219418310insTGCT , CM000664.2:g.219418309_219418310insTGCT
GRCh38
NC_000002.11:g.220283031_220283032insTGCT , CM000664.1:g.220283031_220283032insTGCT
GRCh37
NC_000002.10:g.219991275_219991276insTGCT
NCBI36
NG_008043.1:g.4933_4934insTGCT , LRG_380:g.4933_4934insTGCT
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