ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741935657
Gene: SHOC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2906236
ClinVar RCV Id:
RCV003654773
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_031399.2:p.Thr195Ile
CA378386171
NM_007373.4:c.584C>T