ClinGen Allele Registry
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Canonical Allele Identifier:
CA134173688
Gene:
Linked Data
dbSNP Id:
rs962545680
MyVariant Identifiers:
chr6:g.11943552C>T (hg19)
chr6:g.11943319C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.11943319C>T , CM000668.2:g.11943319C>T
GRCh38
NC_000006.11:g.11943552C>T , CM000668.1:g.11943552C>T
GRCh37
NC_000006.10:g.12051538C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001743976.1:n.348-8216C>T
Search 100 bp 5'
Search 100 bp 3'