ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828981079
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217592
ClinVar RCV Id:
RCV000201674
RCV000500106
RCV000686452
RCV001328280
RCV003330576
RCV003907754
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371661.1:p.Glu142Lys
CA277763
NM_001384732.1:c.424G>A