ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA182463774
Gene:
Linked Data
dbSNP Id:
rs1013573573
gnomAD v2:
8-98282055-G-T
gnomAD v3:
8-97269827-G-T
gnomAD v4:
8-97269827-G-T
MyVariant Identifiers:
chr8:g.98282055G>T (hg19)
chr8:g.97269827G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.97269827G>T , CM000670.2:g.97269827G>T
GRCh38
NC_000008.10:g.98282055G>T , CM000670.1:g.98282055G>T
GRCh37
NC_000008.9:g.98351231G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_125390.1:n.471+149243C>A
Search 100 bp 5'
Search 100 bp 3'