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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:
CA1087354051
Gene:
Linked Data
dbSNP Id:
rs1772167739
gnomAD v3:
6-29950340-GGTGTGTCCC-G
gnomAD v4:
6-29950340-GGTGTGTCCC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.29950341_29950349del , CM000668.2:g.29950341_29950349del
GRCh38
NC_000006.11:g.29918118_29918126del , CM000668.1:g.29918118_29918126del
GRCh37
NC_000006.10:g.30026097_30026105del
NCBI36
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