Canonical Allele Identifier: PA915976539
Gene: CLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 196438
ClinVar RCV Id: RCV000724376 RCV001028014
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006484.2:p.Phe139Leu
CA243394
NM_006493.4:c.415T>C
CA388308937
NM_006493.4:c.417C>A
CA388308939
NM_006493.4:c.417C>G