ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA240602
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194561
ClinVar RCV Id:
RCV000174951
RCV000611123
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075561.3:p.Ser875Phe
CA240601
NM_023073.4:c.2624C>T