ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA182463607
Gene:
Linked Data
dbSNP Id:
rs182806379
gnomAD v3:
8-97269688-A-G
gnomAD v4:
8-97269688-A-G
MyVariant Identifiers:
chr8:g.98281916A>G (hg19)
chr8:g.97269688A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.97269688A>G , CM000670.2:g.97269688A>G
GRCh38
NC_000008.10:g.98281916A>G , CM000670.1:g.98281916A>G
GRCh37
NC_000008.9:g.98351092A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_125390.1:n.471+149382T>C
Search 100 bp 5'
Search 100 bp 3'