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: PA2825719134

Gene: CACNA1C HGNC NCBI

Linked Data

ClinVar Variation Id: 372313

ClinVar RCV Id: RCV000412828 RCV000584800 RCV000631664 RCV001808785 RCV002230228 RCV002288982 RCV002402099

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123309.1:p.Arg518His	CA16042880 NM_001129837.2:c.1553G>A