ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828981241
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452314
ClinVar RCV Id:
RCV000520085
RCV002481731
RCV003327409
RCV003962453
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371661.1:p.Thr552Met
CA3239081
NM_001384732.1:c.1655C>T