ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825662426
Gene: CLCN5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121370.1:p.Ser335Ile
CA413184968
NM_001127898.4:c.1004G>T