Canonical Allele Identifier: PA282351
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44162
ClinVar RCV Id: RCV000037138 RCV000253496 RCV000625056 RCV000768705 RCV002513467
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001223.2:p.Val76Met
CA282349
NM_001232.4:c.226G>A