Canonical Allele Identifier: PA133708
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44167
ClinVar RCV Id: RCV000037143 RCV000244068 RCV001719739 RCV003103723
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001223.2:p.Ile161Val
CA133706
NM_001232.4:c.481A>G