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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:
CA243583522
Gene:
Linked Data
dbSNP Id:
rs952863962
gnomAD v3:
12-110948363-TG-T
gnomAD v4:
12-110948363-TG-T
MyVariant Identifiers:
chr12:g.111386168del (hg19)
chr12:g.110948364del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.110948368del , CM000674.2:g.110948368del
GRCh38
NC_000012.11:g.111386172del , CM000674.1:g.111386172del
GRCh37
NC_000012.10:g.109870555del
NCBI36
Search 100 bp 5'
Search 100 bp 3'