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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:
CA605895849
Gene:
Linked Data
dbSNP Id:
rs1565644218
gnomAD v2:
12-68961478-AAAAC-A
gnomAD v3:
12-68567698-AAAAC-A
gnomAD v4:
12-68567698-AAAAC-A
MyVariant Identifiers:
chr12:g.68961479_68961482del (hg19)
chr12:g.68567699_68567702del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.68567702_68567705del , CM000674.2:g.68567702_68567705del
GRCh38
NC_000012.11:g.68961482_68961485del , CM000674.1:g.68961482_68961485del
GRCh37
NC_000012.10:g.67247749_67247752del
NCBI36
Search 100 bp 5'
Search 100 bp 3'