ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1610684688
Gene:
Linked Data
dbSNP Id:
rs1766138884
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.11943321G>C , CM000668.2:g.11943321G>C
GRCh38
NC_000006.11:g.11943554G>C , CM000668.1:g.11943554G>C
GRCh37
NC_000006.10:g.12051540G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001743976.1:n.348-8214G>C
Search 100 bp 5'
Search 100 bp 3'