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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:
CA605895836
Gene:
Linked Data
dbSNP Id:
rs1344534370
gnomAD v2:
12-68961472-A-AAAAAC
gnomAD v3:
12-68567692-A-AAAAAC
gnomAD v4:
12-68567692-A-AAAAAC
MyVariant Identifiers:
chr12:g.68961482_68961483insAAAAC (hg19)
chr12:g.68961472_68961473insAAAAC (hg19)
chr12:g.68567702_68567703insAAAAC (hg38)
chr12:g.68567692_68567693insAAAAC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.68567702_68567706dup , CM000674.2:g.68567702_68567706dup
GRCh38
NC_000012.11:g.68961482_68961486dup , CM000674.1:g.68961482_68961486dup
GRCh37
NC_000012.10:g.67247749_67247753dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'