ClinGen Allele Registry
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Canonical Allele Identifier:
CA180418729
Gene:
Linked Data
dbSNP Id:
rs945094291
MyVariant Identifiers:
chr8:g.80103398T>A (hg19)
chr8:g.79191163T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.79191163T>A , CM000670.2:g.79191163T>A
GRCh38
NC_000008.10:g.80103398T>A , CM000670.1:g.80103398T>A
GRCh37
NC_000008.9:g.80265953T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745720.1:n.105+792T>A
Search 100 bp 5'
Search 100 bp 3'