ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA198752547
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr9:g.117702042T>C
GRCh37
chr9:g.120464320T>C
Linked Data - Sequence & Population
gnomAD v2:
9:120464320 T / C
gnomAD v3:
9:117702042 T / C
gnomAD v4:
chr9-117702042-T-C
Joint Max Group AF
0.3659393 (EAS)
Genomes Max Group AF
0.3659393 (EAS)
Linked Data - NCBI & NCI
dbSNP:
10116253
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.117702042T>C , CM000671.2:g.117702042T>C
GRCh38
NC_000009.11:g.120464320T>C , CM000671.1:g.120464320T>C
GRCh37
NC_000009.10:g.119504141T>C
NCBI36
NG_011475.1:g.2861T>C
NG_011475.2:g.2640T>C
Search 100 bp 5'
Search 100 bp 3'