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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:
CA983959687
Gene:
Linked Data
dbSNP Id:
rs2048638785
gnomAD v3:
17-43952704-AGAAAG-A
gnomAD v4:
17-43952704-AGAAAG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.43952714_43952718del , CM000679.2:g.43952714_43952718del
GRCh38
NC_000017.10:g.42030082_42030086del , CM000679.1:g.42030082_42030086del
GRCh37
NC_000017.9:g.39385608_39385612del
NCBI36
NG_023338.1:g.56761_56765del
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