Canonical Allele Identifier: PA915953771
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280101
ClinVar RCV Id: RCV000342021 RCV000638257 RCV000778823 RCV001252999 RCV001589311
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Met485Val
CA4537377
NM_000083.3:c.1453A>G