ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573077435
Gene: CPLANE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158057
ClinVar RCV Id:
RCV000145385
RCV002055874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371661.1:p.His2892Tyr
CA271185
NM_001384732.1:c.8674C>T