Canonical Allele Identifier: PA2573283809
Gene: KLC2 HGNC NCBI
ClinVar RCV:
RCV002030243
ClinVar Variation:
1484788
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_073733.1:p.Arg506Cys
CA6117475
NM_022822.3:c.1516C>T