ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1596629139
Gene:
Linked Data
dbSNP Id:
rs1318053609
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.162656564A>C , CM000667.2:g.162656564A>C
GRCh38
NC_000005.9:g.162083570A>C , CM000667.1:g.162083570A>C
GRCh37
NC_000005.8:g.162016148A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001742958.1:n.418+3538T>G
Search 100 bp 5'
Search 100 bp 3'