ClinGen Allele Registry
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Canonical Allele Identifier:
CA801258086
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.104872350T>A
GRCh37
chr5:g.104208051T>A
Linked Data - Sequence & Population
gnomAD v3:
5:104872350 T / A
gnomAD v4:
chr5-104872350-T-A
Joint Max Group AF
0.00001973 (NFE)
Genomes Max Group AF
0.00001973 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1255070826
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.104872350T>A , CM000667.2:g.104872350T>A
GRCh38
NC_000005.9:g.104208051T>A , CM000667.1:g.104208051T>A
GRCh37
NC_000005.8:g.104235950T>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'