ClinGen Allele Registry
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Canonical Allele Identifier:
CA11015266
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.62289409C>A
GRCh37
chr2:g.62516544C>A
Linked Data - Sequence & Population
gnomAD v2:
2:62516544 C / A
gnomAD v3:
2:62289409 C / A
gnomAD v4:
chr2-62289409-C-A
Joint Max Group AF
0.23800862 (NFE)
Genomes Max Group AF
0.23800862 (NFE)
Linked Data - NCBI & NCI
dbSNP:
6713082
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.62289409C>A , CM000664.2:g.62289409C>A
GRCh38
NC_000002.11:g.62516544C>A , CM000664.1:g.62516544C>A
GRCh37
NC_000002.10:g.62370048C>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'