ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828981787
Gene: CPLANE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371661.1:p.Ala1783Asp
CA3238567
NM_001384732.1:c.5348C>A