ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828215215
Gene: CLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2119735
ClinVar RCV Id:
RCV003054806
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001353553.1:p.Thr79Ile
CA388307917
NM_001366624.2:c.236C>T