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: PA916070393

Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 420055

ClinVar RCV Id: RCV000485872 RCV000853325 RCV001851179 RCV002227166

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_075461.2:p.Ser1804Leu	CA16620778 NM_023035.3:c.5411C>T