ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826836793
Gene: SEPTIN9
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000296085
RCV002229959
RCV003940291
RCV004021715
ClinVar Variation:
325544
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280624.1:p.Arg129Trp
CA8793210
NM_001293695.2:c.385C>T