ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2185570233
Gene:
Linked Data
dbSNP Id:
rs1895833365
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.69755848C>G , CM000677.2:g.69755848C>G
GRCh38
NC_000015.9:g.70048187C>G , CM000677.1:g.70048187C>G
GRCh37
NC_000015.8:g.67835241C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001751592.2:n.86-308C>G
Search 100 bp 5'
Search 100 bp 3'