Canonical Allele Identifier: PA2828215144
Gene: CLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 205127
ClinVar RCV Id: RCV000187050 RCV000711259 RCV000755716 RCV000989148 RCV002314701 RCV003977493
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001353553.1:p.Trp26Arg
CA313867
NM_001366624.2:c.76T>C
CA388306482
NM_001366624.2:c.76T>A