ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1740470165
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.124306449T= , CM000669.2:g.124306449T=
GRCh38
NC_000007.13:g.123946503T= , CM000669.1:g.123946503T=
GRCh37
NC_000007.12:g.123733739T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002956584.1:n.73-29T=
Search 100 bp 5'
Search 100 bp 3'