ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA342797
Gene: CPLANE1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_075561.3:p.Arg2493Ter
NM_023073.4:c.[7476del;7478G>T;7480C>A]
NM_023073.4:c.[7476del;7478G>T;7480C>G]
NM_023073.4:c.7477C>T