ClinGen Allele Registry
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Canonical Allele Identifier:
CA1817441819
Gene:
Linked Data
dbSNP Id:
rs1812775893
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.125478462C>T , CM000670.2:g.125478462C>T
GRCh38
NC_000008.10:g.126490704C>T , CM000670.1:g.126490704C>T
GRCh37
NC_000008.9:g.126559886C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928628.1:n.256+5148C>T
Search 100 bp 5'
Search 100 bp 3'