ClinGen Allele Registry
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Canonical Allele Identifier:
CA728695975
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.186681559T>A
GRCh37
chr1:g.186650691T>A
Linked Data - Sequence & Population
gnomAD v3:
1:186681559 T / A
gnomAD v4:
chr1-186681559-T-A
Joint Max Group AF
0.00000488 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1244496611
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.186681559T>A , CM000663.2:g.186681559T>A
GRCh38
NC_000001.10:g.186650691T>A , CM000663.1:g.186650691T>A
GRCh37
NC_000001.9:g.184917314T>A
NCBI36
NG_028206.2:g.3869A>T
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