ClinGen Allele Registry
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Canonical Allele Identifier:
CA13089643
Gene:
Linked Data
dbSNP Id:
rs10817638
gnomAD v2:
9-117322542-A-G
gnomAD v3:
9-114560262-A-G
gnomAD v4:
9-114560262-A-G
MyVariant Identifiers:
chr9:g.117322542A>G (hg19)
chr9:g.114560262A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.114560262A>G , CM000671.2:g.114560262A>G
GRCh38
NC_000009.11:g.117322542A>G , CM000671.1:g.117322542A>G
GRCh37
NC_000009.10:g.116362363A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_930260.1:n.201-1521T>C
Search 100 bp 5'
Search 100 bp 3'