Canonical Allele Identifier: PA2573161153
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1425513
ClinVar RCV Id: RCV001926699
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Ser576Phe
CA369646645
NM_000083.3:c.1727C>T