Canonical Allele Identifier: PA913194649
Gene: CLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 136794
ClinVar RCV Id: RCV000603044 RCV000178274 RCV000675521 RCV001082459 RCV002312551
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006484.2:p.Asn193Lys
CA302986
NM_006493.4:c.579C>A
CA388311204
NM_006493.4:c.579C>G