ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499291250
Gene: STN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079204.2:p.Ser248Cys
CA5676531
NM_024928.5:c.743C>G