ClinGen Allele Registry
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Canonical Allele Identifier:
CA910080392
Gene:
Linked Data
dbSNP Id:
rs918572336
gnomAD v3:
3-72266752-C-A
gnomAD v4:
3-72266752-C-A
MyVariant Identifiers:
chr3:g.72315903C>A (hg19)
chr3:g.72266752C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.72266752C>A , CM000665.2:g.72266752C>A
GRCh38
NC_000003.11:g.72315903C>A , CM000665.1:g.72315903C>A
GRCh37
NC_000003.10:g.72398593C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_940958.1:n.835+8356G>T
Search 100 bp 5'
Search 100 bp 3'