ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA185082
Gene: SHOC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_031399.2:p.Ser57Phe
CA185080
NM_007373.4:c.170C>T