ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828981221
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2139281
ClinVar RCV Id:
RCV003050933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371661.1:p.Lys491Arg
CA3239095
NM_001384732.1:c.1472A>G