ClinGen Allele Registry
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Canonical Allele Identifier:
CA181599872
Gene:
Linked Data
dbSNP Id:
rs1041122742
MyVariant Identifiers:
chr8:g.89993404A>C (hg19)
chr8:g.88981175A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.88981175A>C , CM000670.2:g.88981175A>C
GRCh38
NC_000008.10:g.89993404A>C , CM000670.1:g.89993404A>C
GRCh37
NC_000008.9:g.90062520A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_002956667.1:n.179-99114T>G
Search 100 bp 5'
Search 100 bp 3'