Canonical Allele Identifier: PA1139690387
Gene: CLCN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Thr929Ser
CA4537785
NM_000083.3:c.2785A>T
CA369653811
NM_000083.3:c.2786C>G