ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828981148
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199170
ClinVar RCV Id:
RCV000180684
RCV000201580
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371661.1:p.Thr323Met
CA248228
NM_001384732.1:c.968C>T