Canonical Allele Identifier: PA2828215311
Gene: CLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 457966
ClinVar RCV Id: RCV000557447

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001353553.1:p.Gly169Arg
CA388309441
NM_001366624.2:c.505G>A
CA388309446
NM_001366624.2:c.505G>C