ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2059285031
Gene:
Linked Data
dbSNP Id:
rs1881755013
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.102501424A>G , CM000674.2:g.102501424A>G
GRCh38
NC_000012.11:g.102895202A>G , CM000674.1:g.102895202A>G
GRCh37
NC_000012.10:g.101419332A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001749289.1:n.1952+17536A>G
Search 100 bp 5'
Search 100 bp 3'