ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA12186791
Gene:
Linked Data
dbSNP Id:
rs1264511
gnomAD v2:
6-30413972-G-C
gnomAD v3:
6-30446195-G-C
gnomAD v4:
6-30446195-G-C
MyVariant Identifiers:
chr6:g.30413972G>C (hg19)
chr6:g.30446195G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.30446195G>C , CM000668.2:g.30446195G>C
GRCh38
NC_000006.11:g.30413972G>C , CM000668.1:g.30413972G>C
GRCh37
NC_000006.10:g.30521951G>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'