ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580140646
Gene: CLN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2022919
ClinVar RCV Id:
RCV002875721
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035897.1:p.Leu348Pro
CA395343957
NM_001042432.2:c.1043T>C