ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1563552052
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.92222729G= , CM000667.2:g.92222729G=
GRCh38
NC_000005.9:g.91518546G= , CM000667.1:g.91518546G=
GRCh37
NC_000005.8:g.91554302G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_948565.1:n.394+18045G=
Search 100 bp 5'
Search 100 bp 3'