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: PA2499242339

Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1014266

ClinVar RCV Id: RCV003104029

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001223.2:p.Val76Ala	CA341766973 NM_001232.4:c.227T>C