ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA732527469
Gene:
Linked Data
dbSNP Id:
rs1355248137
gnomAD v3:
1-228862002-C-T
gnomAD v4:
1-228862002-C-T
MyVariant Identifiers:
chr1:g.228997749C>T (hg19)
chr1:g.228862002C>T (hg38)
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'
Search 100 bp 3'