ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828548269
Gene: SIM1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001154902
RCV004548032
ClinVar Variation:
906017
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361698.1:p.Pro352Ser
CA3937142
NM_001374769.1:c.1054C>T