ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830017576
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2195335
ClinVar RCV Id:
RCV002647650
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075561.3:p.Lys2667Glu
CA3237850
NM_023073.4:c.7999A>G