ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA973101886
Gene:
Linked Data
dbSNP Id:
rs1899530371
gnomAD v3:
15-95782358-C-G
gnomAD v4:
15-95782358-C-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.95782358C>G , CM000677.2:g.95782358C>G
GRCh38
NC_000015.9:g.96325587C>G , CM000677.1:g.96325587C>G
GRCh37
NC_000015.8:g.94126591C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_932654.1:n.148-42831C>G
Search 100 bp 5'
Search 100 bp 3'