Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA112112

Gene: CPLANE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265062

ClinVar RCV Id: RCV000255984 RCV001004928 RCV004556055

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_075561.3:p.Arg1193Cys	CA3238910 NM_023073.4:c.3577C>T