ClinGen Allele Registry
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Canonical Allele Identifier:
CA15187461
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.216616548G>A
GRCh37
chr2:g.217481271G>A
Linked Data - Sequence & Population
gnomAD v2:
2:217481271 G / A
gnomAD v3:
2:216616548 G / A
gnomAD v4:
chr2-216616548-G-A
Joint Max Group AF
0.2974782 (EAS)
Genomes Max Group AF
0.2974782 (EAS)
Linked Data - NCBI & NCI
dbSNP:
9288520
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.216616548G>A , CM000664.2:g.216616548G>A
GRCh38
NC_000002.11:g.217481271G>A , CM000664.1:g.217481271G>A
GRCh37
NC_000002.10:g.217189516G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'