ClinGen Allele Registry
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Canonical Allele Identifier:
CA14568719
Gene:
Linked Data
dbSNP Id:
rs206548
gnomAD v2:
18-10382883-C-T
gnomAD v3:
18-10382886-C-T
gnomAD v4:
18-10382886-C-T
MyVariant Identifiers:
chr18:g.10382883C>T (hg19)
chr18:g.10382886C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.10382886C>T , CM000680.2:g.10382886C>T
GRCh38
NC_000018.9:g.10382883C>T , CM000680.1:g.10382883C>T
GRCh37
NC_000018.8:g.10372883C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_935143.1:n.919+1533C>T
Search 100 bp 5'
Search 100 bp 3'