ClinGen Allele Registry
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Canonical Allele Identifier:
CA145942723
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr6:g.117200993C>A
GRCh37
chr6:g.117522156C>A
Linked Data - Sequence & Population
gnomAD v2:
6:117522156 C / A
gnomAD v3:
6:117200993 C / A
gnomAD v4:
chr6-117200993-C-A
Joint Max Group AF
0.00005846 (NFE)
Genomes Max Group AF
0.00005846 (NFE)
Linked Data - NCBI & NCI
dbSNP:
961764
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.117200993C>A , CM000668.2:g.117200993C>A
GRCh38
NC_000006.11:g.117522156C>A , CM000668.1:g.117522156C>A
GRCh37
NC_000006.10:g.117628849C>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'