Allele Registry

Canonical Allele Identifier: PA133702

Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar RCV:

RCV000037136

RCV000247814

RCV000604412

RCV001711119

RCV002421722

RCV002513465

RCV003125855

ClinVar Variation:

44160

1783413

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001223.2:p.Thr66Ala	CA133700 NM_001232.4:c.196A>G CA2580060843 NM_001232.4:c.196_198delinsGCA