ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1804794114
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.97269559G= , CM000670.2:g.97269559G=
GRCh38
NC_000008.10:g.98281787G= , CM000670.1:g.98281787G=
GRCh37
NC_000008.9:g.98350963G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_125390.1:n.471+149511C=
Search 100 bp 5'
Search 100 bp 3'