ClinGen Allele Registry
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Canonical Allele Identifier:
CA130189194
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.157603130T>A
GRCh37
chr5:g.157030138T>A
Linked Data - Sequence & Population
gnomAD v3:
5:157603130 T / A
gnomAD v4:
chr5-157603130-T-A
Joint Max Group AF
0.00097328 (SAS)
Genomes Max Group AF
0.00097328 (SAS)
Linked Data - NCBI & NCI
dbSNP:
542520046
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.157603130T>A , CM000667.2:g.157603130T>A
GRCh38
NC_000005.9:g.157030138T>A , CM000667.1:g.157030138T>A
GRCh37
NC_000005.8:g.156962716T>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'