ClinGen Allele Registry
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Canonical Allele Identifier:
CA12241234
Gene:
Linked Data
dbSNP Id:
rs10943724
gnomAD v2:
6-81302805-C-A
gnomAD v3:
6-80593088-C-A
gnomAD v4:
6-80593088-C-A
MyVariant Identifiers:
chr6:g.81302805C>A (hg19)
chr6:g.80593088C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.80593088C>A , CM000668.2:g.80593088C>A
GRCh38
NC_000006.11:g.81302805C>A , CM000668.1:g.81302805C>A
GRCh37
NC_000006.10:g.81359524C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_002956360.1:n.182+12683C>A
Search 100 bp 5'
Search 100 bp 3'