ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1083723780
Gene:
Linked Data
dbSNP Id:
rs1756515625
gnomAD v3:
5-162656577-G-C
gnomAD v4:
5-162656577-G-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.162656577G>C , CM000667.2:g.162656577G>C
GRCh38
NC_000005.9:g.162083583G>C , CM000667.1:g.162083583G>C
GRCh37
NC_000005.8:g.162016161G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001742958.1:n.418+3525C>G
Search 100 bp 5'
Search 100 bp 3'