ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA910080686
Gene:
Linked Data
dbSNP Id:
rs1322883344
gnomAD v3:
3-72266874-T-A
gnomAD v4:
3-72266874-T-A
MyVariant Identifiers:
chr3:g.72316025T>A (hg19)
chr3:g.72266874T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.72266874T>A , CM000665.2:g.72266874T>A
GRCh38
NC_000003.11:g.72316025T>A , CM000665.1:g.72316025T>A
GRCh37
NC_000003.10:g.72398715T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_940958.1:n.835+8234A>T
Search 100 bp 5'
Search 100 bp 3'