ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2588401996
Gene:
Linked Data
dbSNP Id:
rs2131009352
gnomAD v3:
10-8697695-C-T
gnomAD v4:
10-8697695-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.8697695C>T , CM000672.2:g.8697695C>T
GRCh38
NC_000010.10:g.8739658C>T , CM000672.1:g.8739658C>T
GRCh37
NC_000010.9:g.8779664C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_930641.1:n.33-27894G>A
Search 100 bp 5'
Search 100 bp 3'