ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499276405
Gene: SHOC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_031399.2:p.Asn248Thr
CA378391381
NM_007373.4:c.743A>C