ClinGen Allele Registry
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Canonical Allele Identifier:
CA744342391
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr20:g.40192165G>A
GRCh37
chr20:g.38820805G>A
Linked Data - Sequence & Population
gnomAD v3:
20:40192165 G / A
gnomAD v4:
chr20-40192165-G-A
Joint Max Group AF
0.00000488 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Linked Data - NCBI & NCI
dbSNP:
6028945
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.40192165G>A , CM000682.2:g.40192165G>A
GRCh38
NC_000020.10:g.38820805G>A , CM000682.1:g.38820805G>A
GRCh37
NC_000020.9:g.38254219G>A
NCBI36
Search 100 bp 5'
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