Canonical Allele Identifier: PA112112
Gene: CPLANE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265062
ClinVar RCV Id: RCV000255984 RCV001004928 RCV004556055
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_075561.3:p.Arg1193Cys
CA3238910
NM_023073.4:c.3577C>T