Canonical Allele Identifier: PA645467372
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 292132
ClinVar RCV Id: RCV000413265 RCV001093859 RCV000763715 RCV002338869 RCV002522052 RCV003150158
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001223.2:p.Glu159Lys
CA1023899
NM_001232.4:c.475G>A