Canonical Allele Identifier: PA111860
Gene: CASQ2 HGNC NCBI
ClinVar RCV:
RCV000019178
ClinVar Variation:
17612
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001223.2:p.Leu167His
CA258048
NM_001232.4:c.500T>A