Canonical Allele Identifier: PA645393929
Gene: CLCN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.2:p.Lys614Asn
CA4537498
NM_000083.2:c.1842G>C
CA369647624
NM_000083.2:c.1842G>T