ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828981212
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193929
ClinVar RCV Id:
RCV000174162
RCV000361636
RCV000646719
RCV004020065
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371661.1:p.Leu471Val
CA200857
NM_001384732.1:c.1411C>G