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: PA2826283026

Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 409255

ClinVar RCV Id: RCV000472187 RCV000598341 RCV002496771 RCV001255494 RCV002411476

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001225.1:p.Glu42Ala	CA2236324 NM_001234.5:c.125A>C