ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645405695
Gene: CPLANE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075561.3:p.Val489Phe
CA3239096
NM_023073.4:c.1465G>T