ClinGen Allele Registry
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Canonical Allele Identifier:
CA12847684
Gene:
Linked Data
dbSNP Id:
rs11780156
gnomAD v2:
8-129194641-C-T
gnomAD v3:
8-128182395-C-T
gnomAD v4:
8-128182395-C-T
MyVariant Identifiers:
chr8:g.129194641C>T (hg19)
chr8:g.128182395C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.128182395C>T , CM000670.2:g.128182395C>T
GRCh38
NC_000008.10:g.129194641C>T , CM000670.1:g.129194641C>T
GRCh37
NC_000008.9:g.129263823C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_928641.1:n.861-4161C>T
Search 100 bp 5'
Search 100 bp 3'