ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1139269534
Gene:
Linked Data
dbSNP Id:
rs2053323779
gnomAD v3:
Y-12512452-T-C
gnomAD v4:
Y-12512452-T-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12512452T>C , CM000686.2:g.12512452T>C
GRCh38
NC_000024.9:g.14624252T>C , CM000686.1:g.14624252T>C
GRCh37
NC_000024.8:g.13134260T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'