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: PA2825009856

Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 421493

ClinVar RCV Id: RCV000483306

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000059.3:p.Leu191_Thr193delinsGluLeu	CA16620801 NM_000068.4:c.571_578delinsGAACT