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: PA119451

Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 8290

ClinVar RCV Id: RCV000008787 RCV000024416

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_203123.1:p.Glu47Lys	CA119449 NM_033337.3:c.139G>A