ClinGen Allele Registry
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Canonical Allele Identifier:
CA248432
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr6:g.30806580G>A
GRCh37
chr6:g.30774357G>A
Linked Data - Sequence & Population
gnomAD v2:
6:30774357 G / A
gnomAD v3:
6:30806580 G / A
gnomAD v4:
chr6-30806580-G-A
Joint Max Group AF
0.88530617 (SAS)
Genomes Max Group AF
0.88530617 (SAS)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000190302
ClinVar Variation:
162166
dbSNP:
3130783
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.30806580G>A , CM000668.2:g.30806580G>A
GRCh38
NC_000006.11:g.30774357G>A , CM000668.1:g.30774357G>A
GRCh37
NC_000006.10:g.30882336G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'