ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827251414
Gene: SHOC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240838
ClinVar RCV Id:
RCV000229898
RCV000314432
RCV000479328
RCV001174950
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311266.1:p.Ile204Val
CA5689600
NM_001324337.2:c.610A>G