ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA263747
Gene: CLN3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
70935
ClinVar RCV:
RCV000049708
RCV001378302
ClinVar Variation:
56296
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035897.1:p.Val330Phe
CA263744
NM_001042432.2:c.988G>T