Canonical Allele Identifier: PA645467390
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 227210
ClinVar RCV Id: RCV000249385 RCV001001284 RCV000222224
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001223.2:p.His244Tyr
CA1023814
NM_001232.4:c.730C>T