ClinGen Allele Registry
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Canonical Allele Identifier:
CA31810323
Gene:
Linked Data - Expert Curation
COSMIC:
COSN199463
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.163063816C>A
GRCh37
chr1:g.163033606C>A
Linked Data - Sequence & Population
gnomAD v3:
1:163063816 C / A
gnomAD v4:
chr1-163063816-C-A
Joint Max Group AF
0.00000488 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Linked Data - NCBI & NCI
dbSNP:
777413613
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.163063816C>A , CM000663.2:g.163063816C>A
GRCh38
NC_000001.10:g.163033606C>A , CM000663.1:g.163033606C>A
GRCh37
NC_000001.9:g.161300230C>A
NCBI36
NG_023312.1:g.211C>A
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