Canonical Allele Identifier: PA258017
Gene: CLCN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.2:p.Arg496Ser
CA258016
NM_000083.2:c.1488G>T
CA369645579
NM_000083.2:c.1488G>C