ClinGen Allele Registry
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Canonical Allele Identifier:
CA773969010
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr17:g.6384826C>A
GRCh37
chr17:g.6288146C>A
Linked Data - Sequence & Population
gnomAD v3:
17:6384826 C / A
gnomAD v4:
chr17-6384826-C-A
Joint Max Group AF
0.00000802 (AFR)
Genomes Max Group AF
0.00000802 (AFR)
Linked Data - NCBI & NCI
dbSNP:
8075565
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.6384826C>A , CM000679.2:g.6384826C>A
GRCh38
NC_000017.10:g.6288146C>A , CM000679.1:g.6288146C>A
GRCh37
NC_000017.9:g.6228870C>A
NCBI36
Search 100 bp 5'
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