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: PA2825633067

Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 962111

ClinVar RCV Id: RCV001235912 RCV001751462

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120693.1:p.Glu188Gln	CA404351200 NM_001127221.2:c.562G>C