ClinGen Allele Registry
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Canonical Allele Identifier:
CA13756836
Gene:
Linked Data
dbSNP Id:
rs7970122
gnomAD v2:
12-113579130-A-T
gnomAD v3:
12-113141325-A-T
gnomAD v4:
12-113141325-A-T
MyVariant Identifiers:
chr12:g.113579130A>T (hg19)
chr12:g.113141325A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.113141325A>T , CM000674.2:g.113141325A>T
GRCh38
NC_000012.11:g.113579130A>T , CM000674.1:g.113579130A>T
GRCh37
NC_000012.10:g.112063513A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_945345.1:n.150+887T>A
Search 100 bp 5'
Search 100 bp 3'