Allele Registry

Canonical Allele Identifier: PA175366

Gene: CASQ2 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000150224

RCV000171562

RCV000415704

RCV000617394

RCV000723880

RCV000852589

RCV000999608

RCV002516017

RCV003945182

ClinVar Variation:

162814

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001223.2:p.Phe189Leu	CA175364 NM_001232.4:c.567C>G CA341769015 NM_001232.4:c.567C>A CA341769020 NM_001232.4:c.565T>C