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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:
CA548469329
Gene:
Linked Data
dbSNP Id:
rs1477765431
gnomAD v2:
3-186579838-C-CTGAAATCTCATT
gnomAD v3:
3-186862049-C-CTGAAATCTCATT
gnomAD v4:
3-186862049-C-CTGAAATCTCATT
MyVariant Identifiers:
chr3:g.186579838_186579839insTGAAATCTCATT (hg19)
chr3:g.186862049_186862050insTGAAATCTCATT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.186862051_186862062dup , CM000665.2:g.186862051_186862062dup
GRCh38
NC_000003.11:g.186579840_186579851dup , CM000665.1:g.186579840_186579851dup
GRCh37
NC_000003.10:g.188062534_188062545dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'