ClinGen Allele Registry
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Canonical Allele Identifier:
CA527766791
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.186681542T>C
GRCh37
chr1:g.186650674T>C
Linked Data - Sequence & Population
gnomAD v2:
1:186650674 T / C
gnomAD v3:
1:186681542 T / C
gnomAD v4:
chr1-186681542-T-C
Joint Max Group AF
0.00007279 (SAS)
Genomes Max Group AF
0.00007279 (SAS)
Linked Data - NCBI & NCI
dbSNP:
1343594592
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.186681542T>C , CM000663.2:g.186681542T>C
GRCh38
NC_000001.10:g.186650674T>C , CM000663.1:g.186650674T>C
GRCh37
NC_000001.9:g.184917297T>C
NCBI36
NG_028206.2:g.3886A>G
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