ClinGen Allele Registry
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Canonical Allele Identifier:
CA48993658
Gene:
Linked Data
dbSNP Id:
rs1050435574
gnomAD v2:
2-60500066-T-C
gnomAD v3:
2-60272931-T-C
gnomAD v4:
2-60272931-T-C
MyVariant Identifiers:
chr2:g.60500066T>C (hg19)
chr2:g.60272931T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.60272931T>C , CM000664.2:g.60272931T>C
GRCh38
NC_000002.11:g.60500066T>C , CM000664.1:g.60500066T>C
GRCh37
NC_000002.10:g.60353570T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'