ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1427629818
Gene:
Linked Data
dbSNP Id:
rs1715475750
gnomAD v3:
3-187931481-C-G
gnomAD v4:
3-187931481-C-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.187931481C>G , CM000665.2:g.187931481C>G
GRCh38
NC_000003.11:g.187649269C>G , CM000665.1:g.187649269C>G
GRCh37
NC_000003.10:g.189131963C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_924814.1:n.1433G>C
Search 100 bp 5'
Search 100 bp 3'