ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573077408
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
31224
ClinVar RCV Id:
RCV000034938
RCV003326332
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371661.1:p.Ala2684Thr
CA344567
NM_001384732.1:c.8050G>A