ClinGen Allele Registry
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Canonical Allele Identifier:
CA10932238
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.205750404G>A
GRCh37
chr1:g.205719532G>A
Linked Data - Sequence & Population
gnomAD v2:
1:205719532 G / A
gnomAD v3:
1:205750404 G / A
gnomAD v4:
chr1-205750404-G-A
Joint Max Group AF
0.53995235 (NFE)
Genomes Max Group AF
0.54908294 (NFE)
Exomes Max Group AF
0.52610776 (MID)
Linked Data - NCBI & NCI
dbSNP:
823114
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.205750404G>A , CM000663.2:g.205750404G>A
GRCh38
NC_000001.10:g.205719532G>A , CM000663.1:g.205719532G>A
GRCh37
NC_000001.9:g.203986155G>A
NCBI36
NG_027548.1:g.4841C>T
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