ClinGen Allele Registry
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Canonical Allele Identifier:
CA22679254
Gene:
Linked Data
dbSNP Id:
rs114147144
gnomAD v2:
1-54443865-T-C
gnomAD v3:
1-53978192-T-C
gnomAD v4:
1-53978192-T-C
MyVariant Identifiers:
chr1:g.54443865T>C (hg19)
chr1:g.53978192T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.53978192T>C , CM000663.2:g.53978192T>C
GRCh38
NC_000001.10:g.54443865T>C , CM000663.1:g.54443865T>C
GRCh37
NC_000001.9:g.54216453T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'