ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1818149608
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.126999602C= , CM000670.2:g.126999602C=
GRCh38
NC_000008.10:g.128011847C= , CM000670.1:g.128011847C=
GRCh37
NC_000008.9:g.128081029C=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001746076.2:n.1301-6953C=
Search 100 bp 5'
Search 100 bp 3'