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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:
CA2645462113
Gene:
Linked Data
gnomAD v4:
1-46413913-CTGGCTTGA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.46413914_46413921del , CM000663.2:g.46413914_46413921del
GRCh38
NC_000001.10:g.46879586_46879593del , CM000663.1:g.46879586_46879593del
GRCh37
NC_000001.9:g.46652173_46652180del
NCBI36
NG_012195.1:g.24648_24655del
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