ClinGen Allele Registry
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Canonical Allele Identifier:
CA300063363
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr18:g.50866180C>T
GRCh37
chr18:g.48392550C>T
Linked Data - Sequence & Population
gnomAD v2:
18:48392550 C / T
gnomAD v3:
18:50866180 C / T
gnomAD v4:
chr18-50866180-C-T
Joint Max Group AF
0.36848931 (NFE)
Genomes Max Group AF
0.36848931 (NFE)
Linked Data - NCBI & NCI
dbSNP:
584087
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.50866180C>T , CM000680.2:g.50866180C>T
GRCh38
NC_000018.9:g.48392550C>T , CM000680.1:g.48392550C>T
GRCh37
NC_000018.8:g.46646548C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'