ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573283768
Gene: CPLANE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075561.3:p.Ala1804Ser
CA3238557
NM_023073.4:c.5410G>T