ClinGen Allele Registry
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Canonical Allele Identifier:
CA1040130058
Gene:
Linked Data - Sequence & Population
gnomAD v3:
2:184947213 A / T
gnomAD v4:
chr2-184947213-A-T
Linked Data - NCBI & NCI
dbSNP:
4380187
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.184947213A>T , CM000664.2:g.184947213A>T
GRCh38
NC_000002.11:g.185811940A>T , CM000664.1:g.185811940A>T
GRCh37
NC_000002.10:g.185520185A>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'