Canonical Allele Identifier: PA2580136502
Gene: CLCN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2007460
ClinVar RCV Id: RCV002812143
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121371.1:p.Leu470Phe
CA413186058
NM_001127899.4:c.1408C>T