ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA300040050
Gene:
Linked Data
dbSNP Id:
rs975245450
gnomAD v3:
18-50317171-T-G
gnomAD v4:
18-50317171-T-G
MyVariant Identifiers:
chr18:g.47843541T>G (hg19)
chr18:g.50317171T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.50317171T>G , CM000680.2:g.50317171T>G
GRCh38
NC_000018.9:g.47843541T>G , CM000680.1:g.47843541T>G
GRCh37
NC_000018.8:g.46097539T>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'