ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830425150
Gene: STX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_919337.1:p.Ile181Val
CA387266150
NM_194356.2:c.541A>G