ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828981685
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
427892
ClinVar RCV Id:
RCV000605589
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371661.1:p.Asp1548Gly
CA359497381
NM_001384732.1:c.4643A>G