Canonical Allele Identifier: PA2499227881
Gene: CLCN1 HGNC NCBI
ClinVar RCV:
RCV001459100
ClinVar Variation:
1126895
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Thr82Ala
CA4536875
NM_000083.3:c.244A>G