ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658654429
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
445989
ClinVar RCV Id:
RCV000513844
RCV001175513
RCV001334171
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075561.3:p.Arg2171Gln
CA3238229
NM_023073.4:c.6512G>A