ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA340469
Gene: SEPTIN9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5863
ClinVar RCV Id:
RCV000006221
RCV000516514
RCV004018574
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006631.2:p.Arg88Trp
CA340468
NM_006640.5:c.262C>T