ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827251052
Gene: SHOC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2724657
ClinVar RCV Id:
RCV003539759
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311265.1:p.Leu194Phe
CA378386151
NM_001324336.2:c.580C>T