ClinGen Allele Registry
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Canonical Allele Identifier:
CA734298776
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.248333561A>T
GRCh37
chr1:g.248496863A>T
Linked Data - Sequence & Population
gnomAD v3:
1:248333561 A / T
gnomAD v4:
chr1-248333561-A-T
Linked Data - NCBI & NCI
dbSNP:
4481887
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.248333561A>T , CM000663.2:g.248333561A>T
GRCh38
NC_000001.10:g.248496863A>T , CM000663.1:g.248496863A>T
GRCh37
NC_000001.9:g.246563486A>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'