ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139721236
Gene: SIM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005059.2:p.Pro352Ser
CA3937142
NM_005068.3:c.1054C>T