ClinGen Allele Registry
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Canonical Allele Identifier:
CA13644944
Gene:
Linked Data
dbSNP Id:
rs1157480
gnomAD v2:
12-30373004-T-C
gnomAD v3:
12-30220071-T-C
gnomAD v4:
12-30220071-T-C
MyVariant Identifiers:
chr12:g.30373004T>C (hg19)
chr12:g.30220071T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.30220071T>C , CM000674.2:g.30220071T>C
GRCh38
NC_000012.11:g.30373004T>C , CM000674.1:g.30373004T>C
GRCh37
NC_000012.10:g.30264271T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'