Canonical Allele Identifier: PA2828981422
Gene: CPLANE1 HGNC NCBI
ClinVar RCV:
RCV000201737
ClinVar Variation:
217582
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001371661.1:p.Trp1000Leu
CA277797
NM_001384732.1:c.2999G>T