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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:
CA2640269380
Gene:
Linked Data
gnomAD v4:
17-80101497-GGCCGCGTCACGTGACCCACCGCGGCCCCGCCCCGCGACGAGCTCCC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.80101502_80101547del , CM000679.2:g.80101502_80101547del
GRCh38
NC_000017.10:g.78075301_78075346del , CM000679.1:g.78075301_78075346del
GRCh37
NC_000017.9:g.75689896_75689941del
NCBI36
NG_009822.1:g.4947_4992del , LRG_673:g.4947_4992del
NG_029761.1:g.69871_69916del
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