Canonical Allele Identifier: PA340471
Gene: SEPTIN9 HGNC NCBI
ClinVar RCV:
RCV000006222
ClinVar Variation:
5864
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006631.2:p.Ser93Phe
CA340470
NM_006640.5:c.278C>T