ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827251212
Gene: SHOC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311265.1:p.Leu493Phe
CA213914677
NM_001324336.2:c.1477C>T