ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827251048
Gene: SHOC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1896072
ClinVar RCV Id:
RCV002571854
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311265.1:p.Arg190Gly
CA378386076
NM_001324336.2:c.568A>G