ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA134173693
Gene:
Linked Data
dbSNP Id:
rs973439562
MyVariant Identifiers:
chr6:g.11943582T>C (hg19)
chr6:g.11943349T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.11943349T>C , CM000668.2:g.11943349T>C
GRCh38
NC_000006.11:g.11943582T>C , CM000668.1:g.11943582T>C
GRCh37
NC_000006.10:g.12051568T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001743976.1:n.348-8186T>C
Search 100 bp 5'
Search 100 bp 3'