ClinGen Allele Registry
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Canonical Allele Identifier:
CA173689900
Gene:
Linked Data
dbSNP Id:
rs937052248
MyVariant Identifiers:
chr8:g.20592475A>G (hg19)
chr8:g.20734964A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.20734964A>G , CM000670.2:g.20734964A>G
GRCh38
NC_000008.10:g.20592475A>G , CM000670.1:g.20592475A>G
GRCh37
NC_000008.9:g.20636755A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_949569.3:n.72-55482A>G
Search 100 bp 5'
Search 100 bp 3'