ClinGen Allele Registry
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Canonical Allele Identifier:
CA291847649
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr17:g.54891767T>G
GRCh37
chr17:g.52969128T>G
Linked Data - Sequence & Population
gnomAD v2:
17:52969128 T / G
gnomAD v3:
17:54891767 T / G
gnomAD v4:
chr17-54891767-T-G
Joint Max Group AF
0.53838756 (AFR)
Genomes Max Group AF
0.53838756 (AFR)
Linked Data - NCBI & NCI
dbSNP:
16955329
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.54891767T>G , CM000679.2:g.54891767T>G
GRCh38
NC_000017.10:g.52969128T>G , CM000679.1:g.52969128T>G
GRCh37
NC_000017.9:g.50324127T>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'