ClinGen Allele Registry
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Canonical Allele Identifier:
CA301530148
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr18:g.60373270G>A
GRCh37
chr18:g.58040503G>A
Linked Data - Sequence & Population
gnomAD v3:
18:60373270 G / A
gnomAD v4:
chr18-60373270-G-A
Joint Max Group AF
0.00037972 (EAS)
Genomes Max Group AF
0.00037972 (EAS)
Linked Data - NCBI & NCI
dbSNP:
191530165
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.60373270G>A , CM000680.2:g.60373270G>A
GRCh38
NC_000018.9:g.58040503G>A , CM000680.1:g.58040503G>A
GRCh37
NC_000018.8:g.56191483G>A
NCBI36
NG_016441.1:g.4499C>T
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