ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1796404055
Gene:
Linked Data
dbSNP Id:
rs1810029215
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.79191106T>C , CM000670.2:g.79191106T>C
GRCh38
NC_000008.10:g.80103341T>C , CM000670.1:g.80103341T>C
GRCh37
NC_000008.9:g.80265896T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745720.1:n.105+735T>C
Search 100 bp 5'
Search 100 bp 3'