ClinGen Allele Registry
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Canonical Allele Identifier:
CA13701492
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr12:g.68110812G>A
GRCh37
chr12:g.68504592G>A
Linked Data - Sequence & Population
gnomAD v2:
12:68504592 G / A
gnomAD v3:
12:68110812 G / A
gnomAD v4:
chr12-68110812-G-A
Joint Max Group AF
0.51579431 (AFR)
Genomes Max Group AF
0.51579431 (AFR)
Linked Data - NCBI & NCI
dbSNP:
1558744
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.68110812G>A , CM000674.2:g.68110812G>A
GRCh38
NC_000012.11:g.68504592G>A , CM000674.1:g.68504592G>A
GRCh37
NC_000012.10:g.66790859G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001749191.1:n.4637+7547C>T
Search 100 bp 5'
Search 100 bp 3'