ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1040809094
Gene:
Linked Data
dbSNP Id:
rs1574259810
gnomAD v3:
2-195007059-C-T
gnomAD v4:
2-195007059-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.195007059C>T , CM000664.2:g.195007059C>T
GRCh38
NC_000002.11:g.195871783C>T , CM000664.1:g.195871783C>T
GRCh37
NC_000002.10:g.195580028C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001739836.1:n.553+52376G>A
Search 100 bp 5'
Search 100 bp 3'