ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828981103
Gene: CPLANE1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
272778
ClinVar RCV:
RCV000338303
RCV001158242
RCV004021255
ClinVar Variation:
288541
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371661.1:p.Tyr203Cys
CA3239172
NM_001384732.1:c.608A>G