ClinGen Allele Registry
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Canonical Allele Identifier:
CA15907688
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr17:g.48976466T>C
GRCh37
chr17:g.47053828T>C
Linked Data - Sequence & Population
gnomAD v2:
17:47053828 T / C
gnomAD v3:
17:48976466 T / C
gnomAD v4:
chr17-48976466-T-C
Joint Max Group AF
0.71541472 (AFR)
Genomes Max Group AF
0.71541472 (AFR)
Linked Data - NCBI & NCI
dbSNP:
9899404
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.48976466T>C , CM000679.2:g.48976466T>C
GRCh38
NC_000017.10:g.47053828T>C , CM000679.1:g.47053828T>C
GRCh37
NC_000017.9:g.44408827T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'