Canonical Allele Identifier: PA2825051282
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3233339
ClinVar RCV Id: RCV004527495
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Met419Leu
CA369643692
NM_000083.3:c.1255A>C
CA369643695
NM_000083.3:c.1255A>T