ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA290274274
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr17:g.37666305T>C
Linked Data - Sequence & Population
gnomAD v3:
17:37666305 T / C
gnomAD v4:
chr17-37666305-T-C
Joint Max Group AF
0.51086225 (AMR)
Genomes Max Group AF
0.51086225 (AMR)
Linked Data - NCBI & NCI
dbSNP:
6607284
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.37666305T>C , CM000679.2:g.37666305T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
XR_002958135.1:n.243-17866T>C
Search 100 bp 5'
Search 100 bp 3'