ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645405978
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
353438
ClinVar RCV Id:
RCV000280605
RCV000425279
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075561.3:p.Leu2433Pro
CA3238094
NM_023073.4:c.7298T>C