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: PA1139763768

Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 869437

ClinVar RCV Id: RCV001089530

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_203123.1:p.Glu150del	CA69870774 NM_033337.3:c.449_451del CA351663811 NM_033337.3:c.448G>T