ClinGen Allele Registry
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Canonical Allele Identifier:
CA436714546
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh37
chr3:g.169482345G>C
Linked Data - Sequence & Population
gnomAD v4:
chr3-169764557-G-C
Joint Max Group AF
0.00001404 (SAS)
Exomes Max Group AF
0.00001534 (SAS)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169764557G>C , CM000665.2:g.169764557G>C
GRCh38
NC_000003.11:g.169482345G>C , CM000665.1:g.169482345G>C
GRCh37
NC_000003.10:g.170965039G>C
NCBI36
NG_016363.1:g.5504C>G , LRG_347:g.5504C>G
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