ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828981657
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452725
ClinVar RCV Id:
RCV000520136
RCV001331273
RCV001248105
RCV003925565
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371661.1:p.Ser1487Asn
CA3238703
NM_001384732.1:c.4460G>A