ClinGen Allele Registry
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Canonical Allele Identifier:
CA11332541
Gene:
Linked Data
dbSNP Id:
rs1075309
gnomAD v2:
2-5253598-C-T
gnomAD v3:
2-5113465-C-T
gnomAD v4:
2-5113465-C-T
MyVariant Identifiers:
chr2:g.5253598C>T (hg19)
chr2:g.5113465C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.5113465C>T , CM000664.2:g.5113465C>T
GRCh38
NC_000002.11:g.5253598C>T , CM000664.1:g.5253598C>T
GRCh37
NC_000002.10:g.5171049C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'