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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:
CA2663247614
Gene:
Linked Data
gnomAD v4:
2-219418295-CGGG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.219418296_219418298del , CM000664.2:g.219418296_219418298del
GRCh38
NC_000002.11:g.220283018_220283020del , CM000664.1:g.220283018_220283020del
GRCh37
NC_000002.10:g.219991262_219991264del
NCBI36
NG_008043.1:g.4920_4922del , LRG_380:g.4920_4922del
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