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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:
CA949088161
Gene:
Linked Data
gnomAD v3:
12-71938458-CG-C
gnomAD v4:
12-71938458-CG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.71938459del , CM000674.2:g.71938459del
GRCh38
NC_000012.11:g.72332239del , CM000674.1:g.72332239del
GRCh37
NC_000012.10:g.70618506del
NCBI36
NG_008279.1:g.4614del
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