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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:
CA2668472100
Gene:
Linked Data
gnomAD v4:
3-169764558-GGGT-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169764560_169764562del , CM000665.2:g.169764560_169764562del
GRCh38
NC_000003.11:g.169482348_169482350del , CM000665.1:g.169482348_169482350del
GRCh37
NC_000003.10:g.170965042_170965044del
NCBI36
NG_016363.1:g.5500_5502del , LRG_347:g.5500_5502del
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