ClinGen Allele Registry
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Canonical Allele Identifier:
CA14502816
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr17:g.31779568G>A
GRCh37
chr17:g.30106587G>A
Linked Data - Sequence & Population
gnomAD v2:
17:30106587 G / A
gnomAD v3:
17:31779568 G / A
gnomAD v4:
chr17-31779568-G-A
Joint Max Group AF
0.17076652 (AFR)
Genomes Max Group AF
0.17076652 (AFR)
Linked Data - NCBI & NCI
dbSNP:
8082305
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.31779568G>A , CM000679.2:g.31779568G>A
GRCh38
NC_000017.10:g.30106587G>A , CM000679.1:g.30106587G>A
GRCh37
NC_000017.9:g.27130700G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'