Canonical Allele Identifier: PA658806273
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 532348
ClinVar RCV Id: RCV002529910 RCV003303018 RCV003338703
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001223.2:p.Pro59Ser
CA29625145
NM_001232.4:c.175C>T