Canonical Allele Identifier: PA2828215271
Gene: CLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 196438
ClinVar RCV Id: RCV000724376 RCV001028014
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001353553.1:p.Phe139Leu
CA243394
NM_001366624.2:c.415T>C
CA388308937
NM_001366624.2:c.417C>A
CA388308939
NM_001366624.2:c.417C>G