ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA297177
Gene: SHOC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000466484
RCV000763645
RCV001813417
RCV002262761
RCV002336368
ClinVar Variation:
181527
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_031399.2:p.Ile119Val
CA297175
NM_007373.4:c.355A>G