ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828981046
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197337
ClinVar RCV Id:
RCV000178339
RCV001152760
RCV004020121
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371661.1:p.Ala74Val
CA245417
NM_001384732.1:c.221C>T