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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:
CA1139196788
Gene:
Linked Data
dbSNP Id:
rs2079983159
gnomAD v3:
Y-14289438-TAC-T
gnomAD v4:
Y-14289438-TAC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.14289444_14289445del , CM000686.2:g.14289444_14289445del
GRCh38
NC_000024.9:g.16401324_16401325del , CM000686.1:g.16401324_16401325del
GRCh37
NC_000024.8:g.14910718_14910719del
NCBI36
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