ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580530360
Gene: CPNE8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_705898.1:p.Ile195Val
CA6509795
NM_153634.3:c.583A>G