ClinGen Allele Registry
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Canonical Allele Identifier:
CA14692682
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr19:g.53309270T>C
GRCh37
chr19:g.53812523T>C
Linked Data - Sequence & Population
gnomAD v2:
19:53812523 T / C
gnomAD v3:
19:53309270 T / C
gnomAD v4:
chr19-53309270-T-C
Joint Max Group AF
0.53018523 (NFE)
Genomes Max Group AF
0.53018523 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1428642
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.53309270T>C , CM000681.2:g.53309270T>C
GRCh38
NC_000019.9:g.53812523T>C , CM000681.1:g.53812523T>C
GRCh37
NC_000019.8:g.58504335T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'