ClinGen Allele Registry
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Canonical Allele Identifier:
CA54680809
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.120487456G>A
GRCh37
chr2:g.121245032G>A
Linked Data - Sequence & Population
gnomAD v2:
2:121245032 G / A
gnomAD v3:
2:120487456 G / A
gnomAD v4:
chr2-120487456-G-A
Joint Max Group AF
0.00128216 (SAS)
Genomes Max Group AF
0.00128216 (SAS)
Linked Data - NCBI & NCI
dbSNP:
551680448
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.120487456G>A , CM000664.2:g.120487456G>A
GRCh38
NC_000002.11:g.121245032G>A , CM000664.1:g.121245032G>A
GRCh37
NC_000002.10:g.120961502G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'