ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA213556
Gene: CASQ2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001223.2:p.His244Arg
CA213554
NM_001232.4:c.731A>G