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: PA2580148130

Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2003613

ClinVar RCV Id: RCV002811312 RCV003229097

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120693.1:p.Val1350_Arg1352del	CA2580096691 NM_001127221.2:c.4038_4046del