ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA279379
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217586
ClinVar RCV Id:
RCV000201577
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075561.3:p.Arg944His
CA279378
NM_023073.4:c.2831G>A