ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139721236
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_005059.2:p.Pro352Ser
CA3937142
NM_005068.3:c.1054C>T