ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828215284
Gene: CLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
970155
ClinVar RCV Id:
RCV001245677
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001353553.1:p.His148Tyr
CA7007203
NM_001366624.2:c.442C>T