ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1075354548
Gene:
Linked Data
dbSNP Id:
rs1743090970
gnomAD v3:
5-40401446-T-C
gnomAD v4:
5-40401446-T-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.40401446T>C , CM000667.2:g.40401446T>C
GRCh38
NC_000005.9:g.40401548T>C , CM000667.1:g.40401548T>C
GRCh37
NC_000005.8:g.40437305T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'