ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827251022
Gene: SHOC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452915
ClinVar RCV Id:
RCV000523780
RCV001853695
RCV004023626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311265.1:p.Met149Val
CA5689591
NM_001324336.2:c.445A>G