ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA248229
Gene: CPLANE1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000180684
RCV000201580
ClinVar Variation:
199170
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075561.3:p.Thr323Met
CA248228
NM_023073.4:c.968C>T