ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1052104002
Gene:
Linked Data
dbSNP Id:
rs1708400092
gnomAD v3:
3-109743489-A-G
gnomAD v4:
3-109743489-A-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.109743489A>G , CM000665.2:g.109743489A>G
GRCh38
NC_000003.11:g.109462336A>G , CM000665.1:g.109462336A>G
GRCh37
NC_000003.10:g.110945026A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_924325.1:n.142+63294A>G
Search 100 bp 5'
Search 100 bp 3'