ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580171380
Gene: CASQ1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001222.3:p.Glu198Lys
CA1196260
NM_001231.5:c.592G>A