ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828548373
Gene: SIM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361698.1:p.Asp707His
CA3936871
NM_001374769.1:c.2119G>C