ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827251063
Gene: SHOC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
948626
ClinVar RCV Id:
RCV001219923
RCV002484194
RCV004032377
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311265.1:p.Val207Met
CA213257079
NM_001324336.2:c.619G>A