ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580185920
Gene: CPNE6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2249334
ClinVar RCV Id:
RCV004107004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001267487.1:p.Phe562Val
CA389271731
NM_001280558.2:c.1684T>G