ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA128073230
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr5:g.135899917C>A
GRCh37
chr5:g.135235606C>A
Linked Data - Sequence & Population
gnomAD v2:
5:135235606 C / A
gnomAD v3:
5:135899917 C / A
gnomAD v4:
chr5-135899917-C-A
Joint Max Group AF
0.00001167 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Linked Data - NCBI & NCI
dbSNP:
31563
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.135899917C>A , CM000667.2:g.135899917C>A
GRCh38
NC_000005.9:g.135235606C>A , CM000667.1:g.135235606C>A
GRCh37
NC_000005.8:g.135263505C>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'