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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:
CA1087353946
Gene:
Linked Data
dbSNP Id:
rs1772153966
gnomAD v3:
6-29950238-AAC-A
gnomAD v4:
6-29950238-AAC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.29950240_29950241del , CM000668.2:g.29950240_29950241del
GRCh38
NC_000006.11:g.29918017_29918018del , CM000668.1:g.29918017_29918018del
GRCh37
NC_000006.10:g.30025996_30025997del
NCBI36
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