ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580369193
Gene: SIM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2394658
ClinVar RCV Id:
RCV004226198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_033664.2:p.Ser123Asn
CA10019697
NM_009586.5:c.368G>A