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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:
CA605895858
Gene:
Linked Data
dbSNP Id:
rs1212577867
gnomAD v2:
12-68961482-CAA-C
gnomAD v3:
12-68567702-CAA-C
gnomAD v4:
12-68567702-CAA-C
MyVariant Identifiers:
chr12:g.68961483_68961484del (hg19)
chr12:g.68567703_68567704del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.68567717_68567718del , CM000674.2:g.68567717_68567718del
GRCh38
NC_000012.11:g.68961497_68961498del , CM000674.1:g.68961497_68961498del
GRCh37
NC_000012.10:g.67247764_67247765del
NCBI36
Search 100 bp 5'
Search 100 bp 3'