ClinGen Allele Registry
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Canonical Allele Identifier:
CA12587372
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr7:g.50230076G>A
GRCh37
chr7:g.50269672G>A
Linked Data - Sequence & Population
gnomAD v2:
7:50269672 G / A
gnomAD v3:
7:50230076 G / A
gnomAD v4:
chr7-50230076-G-A
Joint Max Group AF
0.79755824 (SAS)
Genomes Max Group AF
0.79755824 (SAS)
Linked Data - NCBI & NCI
dbSNP:
1456893
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.50230076G>A , CM000669.2:g.50230076G>A
GRCh38
NC_000007.13:g.50269672G>A , CM000669.1:g.50269672G>A
GRCh37
NC_000007.12:g.50240218G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'