ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1818149927
Gene:
Linked Data
dbSNP Id:
rs1814939808
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.126999790T>A , CM000670.2:g.126999790T>A
GRCh38
NC_000008.10:g.128012035T>A , CM000670.1:g.128012035T>A
GRCh37
NC_000008.9:g.128081217T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001746076.2:n.1301-6765T>A
Search 100 bp 5'
Search 100 bp 3'