ClinGen Allele Registry
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Canonical Allele Identifier:
CA528004977
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.192815708T>A
GRCh37
chr1:g.192784838T>A
Linked Data - Sequence & Population
gnomAD v2:
1:192784838 T / A
gnomAD v3:
1:192815708 T / A
gnomAD v4:
chr1-192815708-T-A
Joint Max Group AF
0.00006818 (EAS)
Genomes Max Group AF
0.00006818 (EAS)
Linked Data - NCBI & NCI
dbSNP:
1819741
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.192815708T>A , CM000663.2:g.192815708T>A
GRCh38
NC_000001.10:g.192784838T>A , CM000663.1:g.192784838T>A
GRCh37
NC_000001.9:g.191051461T>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'