ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827251321
Gene: SHOC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311266.1:p.Ser57Phe
CA185080
NM_001324337.2:c.170C>T