ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2298481279
Gene:
Linked Data
dbSNP Id:
rs1910119686
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.41477763T>C , CM000680.2:g.41477763T>C
GRCh38
NC_000018.9:g.39057727T>C , CM000680.1:g.39057727T>C
GRCh37
NC_000018.8:g.37311725T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_935409.1:n.86-26371T>C
Search 100 bp 5'
Search 100 bp 3'