ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499289752
Gene: CPLANE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075561.3:p.Cys2103Trp
CA3238287
NM_023073.4:c.6309T>G