Canonical Allele Identifier: PA301893
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 190740
ClinVar RCV Id: RCV000170886 RCV003338437 RCV002336398 RCV002515228
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001223.2:p.Ile161Leu
CA301891
NM_001232.4:c.481A>C