ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1817441934
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.125478632A= , CM000670.2:g.125478632A=
GRCh38
NC_000008.10:g.126490874A= , CM000670.1:g.126490874A=
GRCh37
NC_000008.9:g.126560056A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928628.1:n.256+5318A=
Search 100 bp 5'
Search 100 bp 3'