ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915976514
Gene: CLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2569
ClinVar RCV Id:
RCV000002678
RCV001039257
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006484.2:p.Cys77Tyr
CA252336
NM_006493.4:c.230G>A