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: PA916004854

Gene: CACNA1E HGNC NCBI

Linked Data

ClinVar Variation Id: 521483

ClinVar RCV Id: RCV000624563 RCV000754084 RCV001269715 RCV001756024 RCV001849415

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001192223.1:p.Ala702Thr	CA33822752 NM_001205294.2:c.2104G>A