ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3072128923
Gene: SIM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005059.2:p.Pro352Ala
CA365113594
NM_005068.3:c.1054C>G