×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA605895862
Gene:
Linked Data
dbSNP Id:
rs1212577867
gnomAD v2:
12-68961482-C-CAA
gnomAD v3:
12-68567702-C-CAA
gnomAD v4:
12-68567702-C-CAA
MyVariant Identifiers:
chr12:g.68961484_68961485insAA (hg19)
chr12:g.68961482_68961483insAA (hg19)
chr12:g.68567704_68567705insAA (hg38)
chr12:g.68567702_68567703insAA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.68567717_68567718dup , CM000674.2:g.68567717_68567718dup
GRCh38
NC_000012.11:g.68961497_68961498dup , CM000674.1:g.68961497_68961498dup
GRCh37
NC_000012.10:g.67247764_67247765dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'