ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825587149
Gene: LCA5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002602302
ClinVar Variation:
2175311
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116241.1:p.Gly591Cys
CA364638557
NM_001122769.3:c.1771G>T