Canonical Allele Identifier: PA301924
Gene: CASQ2 HGNC NCBI
ClinVar RCV:
RCV000170899
ClinVar Variation:
68878
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001223.2:p.Asp32Asn
CA301922
NM_001232.4:c.94G>A