ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828548268
Gene: SIM1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000405629
RCV001712157
ClinVar Variation:
354681
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361698.1:p.Pro352Thr
CA3937141
NM_001374769.1:c.1054C>A