ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2715424663
Gene:
Linked Data
dbSNP Id:
rs2116132377
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.97388484T>C , CM000669.2:g.97388484T>C
GRCh38
NC_000007.13:g.97017796T>C , CM000669.1:g.97017796T>C
GRCh37
NC_000007.12:g.96855732T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745293.1:n.127-59837A>G
Search 100 bp 5'
Search 100 bp 3'