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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:
CA691348051
Gene:
Linked Data
dbSNP Id:
rs1162989289
gnomAD v3:
12-68567694-AAACAAAAC-A
gnomAD v4:
12-68567694-AAACAAAAC-A
MyVariant Identifiers:
chr12:g.68961475_68961482del (hg19)
chr12:g.68567695_68567702del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.68567697_68567704del , CM000674.2:g.68567697_68567704del
GRCh38
NC_000012.11:g.68961477_68961484del , CM000674.1:g.68961477_68961484del
GRCh37
NC_000012.10:g.67247744_67247751del
NCBI36
Search 100 bp 5'
Search 100 bp 3'