ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA846947107
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.125511281C>G
GRCh37
chr8:g.126523523C>G
Linked Data - NCBI & NCI
dbSNP:
4360309
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.125511281C>G , CM000670.2:g.125511281C>G
GRCh38
NC_000008.10:g.126523523C>G , CM000670.1:g.126523523C>G
GRCh37
NC_000008.9:g.126592705C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928628.1:n.256+37967C>G
Search 100 bp 5'
Search 100 bp 3'