ClinGen Allele Registry
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Canonical Allele Identifier:
CA12144354
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.123195653G>A
GRCh37
chr5:g.122531347G>A
Linked Data - Sequence & Population
gnomAD v2:
5:122531347 G / A
gnomAD v3:
5:123195653 G / A
gnomAD v4:
chr5-123195653-G-A
Joint Max Group AF
0.26770191 (NFE)
Genomes Max Group AF
0.26770191 (NFE)
Linked Data - NCBI & NCI
dbSNP:
17470137
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.123195653G>A , CM000667.2:g.123195653G>A
GRCh38
NC_000005.9:g.122531347G>A , CM000667.1:g.122531347G>A
GRCh37
NC_000005.8:g.122559246G>A
NCBI36
NG_053114.1:g.111551G>A
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