ClinGen Allele Registry
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Canonical Allele Identifier:
PA175366
Gene: CASQ2
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001223.2:p.Phe189Leu
NM_001232.4:c.565T>C
NM_001232.4:c.567C>A
NM_001232.4:c.567C>G