ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828981649
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
261671
ClinVar RCV Id:
RCV000245872
RCV000369776
RCV001568573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371661.1:p.Ser1468Cys
CA3238710
NM_001384732.1:c.4403C>G