ClinGen Allele Registry
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Canonical Allele Identifier:
CA856574028
Gene:
Linked Data
dbSNP Id:
rs1312472628
MyVariant Identifiers:
chr8:g.89993432C>A (hg19)
chr8:g.88981203C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.88981203C>A , CM000670.2:g.88981203C>A
GRCh38
NC_000008.10:g.89993432C>A , CM000670.1:g.89993432C>A
GRCh37
NC_000008.9:g.90062548C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_002956667.1:n.179-99142G>T
Search 100 bp 5'
Search 100 bp 3'