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: PA112029

Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 8288

ClinVar RCV Id: RCV000008785 RCV000024395 RCV001150160

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001225.1:p.Thr64Ser	CA215154 NM_001234.5:c.191C>G CA351663259 NM_001234.5:c.190A>T