ClinGen Allele Registry
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Canonical Allele Identifier:
CA658843392
Gene:
Linked Data
dbSNP Id:
rs1457427189
MyVariant Identifiers:
chr10:g.101861472C>T (hg19)
chr10:g.100101715C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.100101715C>T , CM000672.2:g.100101715C>T
GRCh38
NC_000010.10:g.101861472C>T , CM000672.1:g.101861472C>T
GRCh37
NC_000010.9:g.101851462C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_946245.1:n.185+5478C>T
Search 100 bp 5'
Search 100 bp 3'