ClinGen Allele Registry
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Canonical Allele Identifier:
CA990116147
Gene:
Linked Data - Sequence & Population
gnomAD v3:
18:49001745 C / T
gnomAD v4:
chr18-49001745-C-T
Linked Data - NCBI & NCI
dbSNP:
2070491116
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.49001745C>T , CM000680.2:g.49001745C>T
GRCh38
NC_000018.9:g.46528115C>T , CM000680.1:g.46528115C>T
GRCh37
NC_000018.8:g.44782113C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'