ClinGen Allele Registry
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Canonical Allele Identifier:
CA732527469
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.228862002C>T
GRCh37
chr1:g.228997749C>T
Linked Data - Sequence & Population
gnomAD v3:
1:228862002 C / T
gnomAD v4:
chr1-228862002-C-T
Joint Max Group AF
0.0000117 (NFE)
Genomes Max Group AF
0.0000117 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1355248137
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.228862002C>T , CM000663.2:g.228862002C>T
GRCh38
NC_000001.10:g.228997749C>T , CM000663.1:g.228997749C>T
GRCh37
NC_000001.9:g.227064372C>T
NCBI36
Search 100 bp 5'
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